A set of case definitions has been developed by the newborn screening community to facilitate common classifications for diagnoses across programs for all of the core newborn screening conditions. These definitions have been developed through an iterative process by experts in state newborn screening programs. They have also been piloted in newborn screening programs and integrated into the NewSTEPs Data Repository. Consensus public health surveillance case definitions for newborn screening disorders will allow for consistent categorization and tracking of short and long-term follow-up of identified newborns at the local, regional and national levels.

Metabolic Disorder:

Organic acid condition
Glutaric acidemia type I (GA1)
Classification Urine or serum organic acids Plasma Acylcarnitines Mutation analysis Enzyme analysis
Definite Untested or unknown Untested or unknown 2 known disease causing variants in the same gene (Allele 1 – variant known to be disease causing and Allele 2 – variant known to be disease causing) Untested or unknown
Definite Untested or unknown Untested or unknown Untested or uknown enzyme activity consistent with disease
Definite Elevated - 3-OH Glutaric and - Glutaric Elevated C5 - DC Untested or uknown Untested or unknown
Probable Elevated - 3-OH Glutaric Elevated C5 - DC Untested or uknown Untested or unknown
Probable Elevated glutaric Elevated C5 - DC 2 variants of uncertain significance in the same gene - predicted to be pathogenic [Allele 1 - variant of unknown significance (predicted to be pathogenic) and Allele 2 – variant of unknown significance (predicted to be pathogenic)] Untested or unknown
Probable Elevated glutaric Elevated C5 - DC Untested or uknown Untested or unknown
Holocarboxylase synthase deficiency (MCD)
Classification Urine organic acids Plasma Acylcarnitines Infant chemistries/studies Mutation analysis Enzyme analysis
Definie Untested or unknown Untested or unknown Untested or unknown 2 known disease causing variants in the same gene (Allele 1 – variant known to be disease causing and Allele 2 – variant known to be disease causing) Untested or unknown
Definite Untested or unknown Untested or unknown Untested or unknown Untested or unknown enzyme activity on fibroblasts or WBCs consistent with disease
Definite Elevated -3OH Isovaleric and -3OH Propionic and -3methylcrotonyl glycine elevated C3; and C5-OH Normal biotinidase studies Untested or unknown Untested or unknown
Possible Elevated -3OH Isovaleric and -3methylcrotonyl glycine elevated C3; and C5-OH Normal biotinidase studies Untested or unknown Untested or unknown
Possible Elevated -propionyl glycine and -3methylcrotonyl glycine elevated C3; and C5-OH Normal biotinidase studies Untested or unknown Untested or unknown
Possible Normal elevated C3; and C5-OH Normal biotinidase studies 1 known disease causing variant (Allele 1 - variant known to be disease causing) Untested or unknown
Possible Normal elevated C3; and C5-OH Normal biotinidase studies 2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 – variant of unknown significance) Untested or unknown
Isovaleric acidemia (IVA)
Classification Urine organic acids Plasma Acylcarnitines Mutation analysis Enzyme analysis
Definite Untested or unknown Untested or unknown 2 known disease causing variants in the same gene (Allele 1 ? variant known to be disease causing and Allele 2 ? variant known to be disease causing) Untested or unknown
Definite Untested or unknown Untested or unknown Untested or unknown Enzyme activity on fibroblasts or WBCs consistent with disease
Definite Elevated - isovalerylglycine and - 3-OH Isovaleric Elevated C5 Untested or unknown Untested or unknown
Definite Elevated Isovalerylglycine Elevated C5 2 variants of uncertain significance in the same gene - predicted to be pathogenic [Allele 1 - variant of unknown significance (predicted to be pathogenic) and Allele 2 ? variant of unknown significance (predicted to be pathogenic)] Untested or unknown
Possible Elevated Isovalerylglycine Elevated C5 Untested or unknown Untested or unknown
Possible Elevated Isovalerylglycine Elevated C5 1 known disease causing variant (Allele 1 - variant known to be disease causing) Untested or unknown
Possible Elevated Isovalerylglycine Elevated C5 2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 ? variant of unknown significance) Untested or unknown
3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)
Classification Urine organic acids Plasma Acylcarnitines Maternal Studies Mutation analysis Enzyme analysis
Definite Untested or unknown Untested or unknown Untested or unknown 2 known disease causing mutations in the same gene Untested or unknown
Definite Untested or unknown Untested or unknown Untested or unknown 2 mutations of uncertain significance in the same gene OR Only one mutation identified OR No mutations found OR Untested OR Unknown enzyme activity consistent with disease
Definite Elevated 3-OH Isovaleric with or without elevated 3-methylcrotonyl glycine elevated C5 -OH Maternal deficiency tested and ruled out 2 mutations of uncertain significance in the same gene - predicted to be pathogenic Untested or unknown
Probable Elevated 3-OH Isovaleric with or without elevated 3-methylcrotonyl glycine elevated C5 -OH Maternal deficiency tested and ruled out 2 mutations of uncertain significance in the same gene (one mutation may be of uncertain significance predicted to be pathogenic) Untested or unknown
Probable Elevated - 3-OH Isovaleric and - 3-methylcrotonyl glycine elevated C5 -OH Maternal deficiency tested and ruled out Only one mutation identified OR No mutations found OR Untested OR Unknown Untested or unknown
Possible Elevated - 3-OH Isovaleric and - 3-methylcrotonyl glycine Untested or unknown Maternal deficiency tested and ruled out Only one mutation identified OR No mutations found OR Untested OR Unknown Untested or unknown
Possible Untested or unknown elevated C5 -OH Maternal deficiency tested and ruled out Only one mutation identified OR No mutations found OR Untested OR Unknown Untested or unknown
Methylmalonic acidemia (MMA)
Classification Urine or serum organic acids Plasma Acylcarnitines Maternal Studies Infant chemistries/ studies Mutation analysis Enzyme analysis
Definite Untested or unknown Untested or unknown Untested or unknown Untested or unknown 2 known disease causing variants in the same gene (Allele 1 - variant known to be disease causing and Allele 2 - variant known to be disease causing) Untested or unknown
Definite Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown complementation studies consistent with corresponding disease
Definite Elevated MMA for age Elevarted C3 Absence of B12 deficiency Absence of B12 deficiency and -Normal homocysteine 2 variants of uncertain significance in the same gene - predicted to be patogenic [Allele 1 - variant of unknown significance (predicted to be pathogenic) and Allele 2 - variant of unknown significance (predicted to be pathogenic)] Untested or unknown
Probable Elevated MMA for age Elevarted C4 Absence of B12 deficiency Absence of B12 deficiency and -Normal homocysteine 2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 - variant of unknown significance) Untested or unknown
Probable Elevated MMA for age Elevarted C5 Absence of B12 deficiency Absence of B12 deficiency and -Normal homocysteine Untested or unknown Untested or unknown
Probable Elevated MMA for age Elevated C6 Absence of B12 deficiency Absence of B12 deficiency and -Normal homocysteine 1 known disease causing variant (Allele 1 - variant known to be disease causing) Untested or unknown
Probable Elevated MMA for age Elevarted C7 Absence of B12 deficiency Absence of B12 deficiency and -Normal homocysteine None found Untested or unknown
Probable Elevated MMA for age Elevarted C8 Untested or unknown Absence of B12 deficiency and -Normal homocysteine N/A Untested or unknown
Methylmalonic acidemia with homocystinuria (Cbl C,D)
Classification Urine serum organic acids Plasma Acylcarnitines Maternal Studies Infant chemistries/ studies Mutation analysis Enzyme analysis
Definite Untested or unknown Untested or unknown Untested or unknown Untested or unknown 2 known disease causing variants in the same gene (Allele 1 - variant known to be disease causing and Allele 2 - variant known to be disease causing) Untested or unknown
Definite Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Complementation studies consistent with corresponding disease
Definite Elevated MMA for age Elevated C3 Absence of B12 deficiency Absence of B12 deficiency and -Elevated homocysteine 2 variants of uncertain significance in the same gene - predicted to be pathogenic [ Allele 1 - variant of unknown significance (predicted to be pathogenic) and Allele 2 - variant of unknown significance (predicted to be pathogenic)] Untested or unknown
Probable Elevated MMA for age Elevated C3 Absence of B12 deficiency Absence of B12 deficiency and -Elevated homocysteine 2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 - variant of unknown significance) Untested or unknown
Probable Elevated MMA for age Elevated C3 Absence of B12 deficiency Absence of B12 deficiency and -Elevated homocysteine Untested or unknown Untested or unknown
Probable Elevated MMA for age Elevated C3 Absence of B12 deficiency Absence of B12 deficiency and -Elevated homocysteine 1 known disease causing variant (Allele 1 - variant known to be disease causing) Untested or unknown
Possible Elevated MMA for age Elevated C3 Absence of B12 deficiency Absence of B12 deficiency and -Elevated homocysteine None found Untested or unknown
Possible Elevated MMA for age Elevated C3 Untested or unknown Absence of B12 deficiency and -Elevated homocysteine N/A Untested or unknown
Propionic acidemia (PROP)
Classification Urine organic acids Plasma Acylcarnitines Mutation analysis
Definite Untested or unknown Untested or unknown 2 known disease causing variants in the same gene (Allele 1 - variant known to be disease causing and Allele 2 - variant known to be disease causing)
Definite Presence of --methylcitrate and - +/-3OH propionic acid, propionyl glycine, -tiglyglycine and Absence of: -MMA and - methylcrotonyl glycine Elevated C3 Untested or unknown
Probable Presence of -3-OH propionic and Absence of: -MMA and -methylcrotonyl glycine Elevated C3 2 variants of uncertain significance in the same gene - predicted to be pathogenic [Allele 1 - variant of unknown significance (predicted to be pathogenic) and Allele 2 - variant of unknown significance (predicted to be pathogenic)]
Possible Presence of -3-OH propionic and Absence of: -MMA and -methylcrotonyl glycine Elevated C3 Untested or unknown
Possible Presence of -3-OH propionic and Absence of: -MMA and -methylcrotonyl glycine Elevated C3 2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 - variant of unknown significance)
Possible Presence of -3-OH propionic and Absence of: -MMA and -methylcrotonyl glycine Elevated C3 1 known disease causing variant (Allele 1 - variant known to be disease causing)
Possible Absence of -MMA and -methylcrotonyl glycine Elevated C3 2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 - variant of unknown significance)

Metabolic Disorder:

Fatty acid oxidation disorder
Carnitine uptake defect/carnitine transport defect (CUD)
Classification Urine Carnitine excretion Plasma Carnitine Special Circumstance Mutation analysis Enzyme analysis
Definite Untested or unknown Untested or unknown Untested or unknown 2 known disease causing variants in the same gene (Allele 1 – variant known to be disease causing and Allele 2 – variant known to be disease causing) Untested or unknown
Definite Untested or unknown Untested or unknown Untested or unknown Untested or unknown enzyme activity consistent with disease
Definite Elevated fractional excretion of free carnitine Low free carnitine Secondary carnitine loss ruled out Untested or unknown Untested or unknown
Probable Untested or unknown Low free carnitine Secondary carnitine loss ruled out 2 variants of uncertain significance in the same gene - predicted to be pathogenic [Allele 1 - variant of unknown significance (predicted to be pathogenic) and Allele 2 – variant of unknown significance (predicted to be pathogenic)] Untested or unknown
Possible Untested or unknown Low free carnitine Secondary carnitine loss ruled out 1 known disease causing variant (Allele 1 - variant known to be disease causing) Untested or unknown
Possible Untested or unknown Low free carnitine Secondary carnitine loss ruled out 2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 – variant of unknown significance) Untested or unknown
Possible Untested or unknown Low free carnitine Secondary carnitine loss ruled out None found Untested or unknown
Possible Untested or unknown Low free carnitine Secondary carnitine loss ruled out Untested or unknown Untested or unknown
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
Classification Urine Organics or aclyglycines Plasma Acylcarnitines Mutation analysis Functional Studies
Definite Untested or unknown Untested or unknown 2 known disease causing mutations in the same gene Untested or unknown
Definite Untested or unknown Untested or unknown Untested or unknown Functional fibroblast or Enzyme analysis consistent with MCAD
Definite Elevated hexanoylglycine Elevated: -C8 and -C8>C10 and -C8 >C6 and -C6 and -C10 Untested or unknown Untested or unknown
Definite Untested or unknown Elevated: -C8 and -C8>C10 and -C8 >C6 and -C6 and -C10 2 mutations of uncertain significance in the same gene - predicted to be pathogenic Untested or unknown
Probable Untested or unknown Elevated C8 on repeat testing 1 known disease causing mutation and 1 mutation of uncertain significance in the same gene Untested or unknown
Probable Elevated hexanoylglycine Elevated C8 on repeat testing 1 known disease causing mutation Untested or unknown
Probable Untested or unknown Elevated C8 on repeat testing 2 mutations of uncertain significance in the same gene Untested or unknown
Possible Elevated hexanoylglycine Elevated C8 on repeat testing No mutation found Untested or unknown
Possible Elevated hexanoylglycine Untested or unknown 2 mutations of uncertain significance in the same gene Untested or unknown
Possible Elevated Hexanoylglycine Untested or unknown No mutation found Untested or unknown
Possible Untested or unknown Elevated C8 on repeat testing No mutation found Untested or unknown
Possible or Carrier Untested or unknown Elevated C8 1 known disease causing mutation Untested or unknown
Possible or Carrier Elevated Hexanoylglycine Normal 1 known disease causing mutation Untested or unknown
Trifunctional protein deficiency (TFP) - inclusive of LCHAD
Classification Urine Organics Plasma Acylcarnitines Mutation analysis Functional Studies
Definite Untested or unknown Untested or unknown 2 known disease causing variants in the same gene (Allele 1 variant known to be disease causing and Allele 2 – variant known to be disease causing) Untested or unknown
Definite Untested or unknown Untested or unknown Untested or unknown Functional fibroblast or Enzyme analysis consistent with LCHAD or TFP
Definite Untested or unknown Elevated: -C16-OH (on more than one specimen) and -C16:1-OH and -C18-OH and -C18:1-OH 2 variants of uncertain significance in the same gene - predicted to be pathogenic [Allele 1 - variant of unknown significance (predicted to be pathogenic) and Allele 2 – variant of unknown significance (predicted to be pathogenic)] Untested or unknown
Probable Elevated -C12-OH dicarboxylic and -C10-OH dicarboxylic Elevated: -C16-OH (on more than one specimen)and -C16:1-OH and -C18-OH and -C18:1-OH Untested or unknown Untested or unknown
Probable Untested or unknown Elevated: -C16-OH (on more than one specimen) and -C16:1-OH and -C18-OH and -C18:1-OH 1 known disease causing variant (Allele 1 - variant known to be disease causing) Untested or unknown
Probable Untested or unknown Elevated: -C16-OH (on more than one specimen) and -C16:1-OH and -C18-OH and -C18:1-OH 2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 – variant of unknown significance) Untested or unknown
Possible Untested or unknown Elevated: -C16-OH (on more than one specimen) and -C16:1-OH and -C18-OH and -C18:1-OH No variants found Untested or unknown
Possible Untested or unknown Elevated: -C16-OH (on more than one specimen) and -C16:1-OH and -C18-OH and -C18:1-OH Untested or unknown Untested or unknown
Possible Elevated -C12-OH dicarboxylic and -C10-OH dicarboxylic Untested or unknown Untested or unknown Untested or unknown
Possible Elevated -C12-OH dicarboxylic and -C10-OH dicarboxylic Untested or unknown 1 known disease causing variant (Allele 1 - variant known to be disease causing) Untested or unknown
Possible Untested or unknown Elevated: -C16-OH (on more than one specimen) 2 known disease causing variant (Allele 1 - variant known to be disease causing) Untested or unknown
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
Classification Plasma Acylcarnitines Mutation analysis Functional Studies
Definite Untested or unknown 2 known disease causing variants in the same gene (Allele 1 – variant known to be disease causing and Allele 2 – variant known to be disease causing) Untested or unknown
Definite Untested or unknown Untested or unknown Functional fibroblast or Enzyme analysis consistent with VLCAD
Definite Elevated -C14:1 (on more than one sample) and -C14:2 and -C14 Untested or unknown Untested or unknown
Definite Elevated -C14:1 (on more than one sample) 2 variants of uncertain significance in the same gene - predicted to be pathogenic [Allele 1 - variant of unknown significance (predicted to be pathogenic) and Allele 2 – variant of unknown significance (predicted to be pathogenic)] Untested or unknown
Probable Elevated -C14:1 (on more than one sample) and -C14:2 2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 – variant of unknown significance) Untested or unknown
Probable Elevated -C14:1 (on more than one sample) 2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 – variant of unknown significance) Untested or unknown
Probable Elevated -C14:1 (on more than one sample) and -C14:2 1 known disease causing variant (Allele 1 - variant known to be disease causing) Untested or unknown
Possible Elevated -C14:1 (on more than one sample) and -C14:3 Untested or unknown Untested or unknown
Possible Elevated -C14:1 (on more than one sample) and -C14:4 No variants found Untested or unknown
Possible Elevated -C14:1 (on more than one sample) Untested or unknown Untested or unknown
Possible Elevated -C14:1 (on more than one sample) No variants found Untested or unknown
Possible Elevated -C14:1 (on more than one sample) 1 known disease causing variant (Allele 1 - variant known to be disease causing) Untested or unknown

Metabolic Disorder:

Amino acid disorder
Argininosuccinic aciduria (ASA)
Classification Plasma or urine amino acids Mutation analysis Enzyme Studies
Definite Untested or unknown 2 known disease causing mutations in the same gene Untested or unknown
Definite Untested or unknown Untested or unknown Enzyme analysis consistent with ASA
Definite Elevated -ASA and -Citrulline Untested or unknown Untested or unknown
Definite Elevated ASA 2 mutations of uncertain significance in the same gene - predicted to be pathogenic Untested or unknown
Possible Elevated Citrulline 1 known disease causing mutation Untested or unknown
Possible Elevated Citrulline 2 mutations of uncertain significance in the same gene Untested or unknown
Citrullinemia, type I (CIT) - exclusive of Citrin deficiency
Classification Plasma amino acids Blood Ammonia Levels Mutation analysis Enzyme Studies
Definite Untested or unknown Untested or unknown 2 known disease causing mutations in the same gene Untested or unknown
Definite Untested or unknown Untested or unknown Untested or unknown Enzyme analysis consistent with Citrullinemia type I
Definite Elevated Citrulline and Absent ASA Untested or unknown 2 mutations of uncertain significance in the same gene - predicted to be pathogenic Untested or unknown
Definite Elevated Citrulline and Absent ASA Elevated Untested or unknown Untested or unknown
Probable Elevated Citrulline and Absent ASA Untested or unknown 1 known disease causing mutation Untested or unknown
Probable Elevated Citrulline and Absent ASA Untested or unknown 2 mutations of uncertain significance in the same gene Untested or unknown
Possible Elevated Citrulline and Absent ASA Untested or unknown Untested or unknown Untested or unknown
Classic phenylketonuria (PKU) and benign hyperphenylalanemia (H-PHE)
Classification Plasma amino acids Special Studies Mutation analysis Enzyme Studies
Definite Untested or unknown Untested or unknown 2 known disease causing mutations in the same gene Untested or unknown
Definite Untested or unknown Untested or unknown Untested or unknown Enzyme analysis consistent with PAH deficiency
Definite Elevated Phe (>120umol/L on unrestricted diet) and Phe/Tyr ratio Normal biopterin studies Untested or unknown Untested or unknown
Possible Elevated Phe (>120umol/L on unrestricted diet) and Phe/Tyr ratio Untested or unknown Untested or unknown Untested or unknown
Cystathionine beta-synthase (CBS) deficiency (Classic Homocystinuria)
Classification Plasma amino acids Mutation analysis Enzyme Studies
Definite Untested or unknown 2 known disease causing mutations in the same gene Untested or unknown
Definite Untested or unknown Untested or unknown Enzyme analysis consistent with CBS deficiency
Definite Elevated -Methionine and -Homocysteine 2 mutations of uncertain significance in the same gene - predicted to be pathogenic Untested or unknown
Probable Elevated -Methionine and -Homocysteine 2 mutations of uncertain significance in the same gene (may include 1 mutation predicted to be pathogenic and one mutation of uncertain significance) Untested or unknown
Probable Elevated -Methionine and -Homocysteine 1 known disease causing mutations and 1 mutation of uncertain significance in the same gene Untested or unknown
Possible Elevated -Methionine and -Homocysteine Only one mutation identified OR No mutations found OR Untested OR Unknown Untested or unknown Untested or unknown
Maple syrup urine disease (MSUD)
Classification Plasma amino acids Urine Organic acids Mutation analysis Enzyme Studies
Definite Untested or unknown Untested or unknown 2 known disease causing mutations in the same gene Untested or unknown
Definite Untested or unknown Untested or unknown Any mutation results Untested or unknown Enzyme analysis consistent with MSUD
Definite Elevated Alloisoleucine and Leu, and Val, and Ileu Untested or unknown Any mutation results Untested or unknown Untested or unknown
Definite Elevated Alloisoleucine Untested or unknown 2 mutations of uncertain significance in the same gene - predicted to be pathogenic Untested or unknown
Probable Elevated Alloisoleucine Untested or unknown 2 mutations of uncertain significance Only one mutation identified No mutations found Untested or unknown Untested or unknown
Probable Elevated Leu and Ile and Val and Leu>Val 2-ketoisocaproic acid and 2-OH Isovaleric and 2-ketomethyl valeric acid 2 mutations of uncertain significance Only one mutation identified No mutations found Untested or unknown Untested or unknown
Possible Elevated Leu and Ile and Val and Leu>Val Untested or unknown 3 mutations of uncertain significance Only one mutation identified No mutations found Untested or unknown Untested or unknown
Tyrosinemia, type I (TYR I)
Classification Urine or Serum studies Mutation analysis Enzyme Studies
Definite Untested or unknown 2 known disease causing mutations in the same gene Untested or unknown
Definite Untested or unknown Untested or unknown Enzyme analysis consistent with FAH enzyme deficiency
Definite Elevated Succinylacetone Untested or unknown Untested or unknown
Possible Elevated tyrosine and Normal Succinylacetone 2 mutations of uncertain significance in the same gene - predicted to be pathogenic Untested or unknown
Possible Elevated tyrosine and Normal Succinylacetone 1 known disease causing mutation Untested or unknown
Possible Elevated tyrosine and Normal Succinylacetone 2 mutations of uncertain significance in the same gene Untested or unknown

Endocrine Disorder

21-Hydroxylase deficiency – classical salt wasting
Category Serum 17-OHP - baseline or ACTH stimulated* Urinary steroid profiling Serum Sodium mEq/L Plasma Renin Activity CYP21A2 Mutation Analysis If available - Supportive Clinical or Laboratory Evidence
Definite > 10,000 Untested or unknown < 135 Untested or unknown Untested or unknown Evidence of salt wasting (present in shock or severe failure to thrive)
Definite > 10,000 Untested or unknown <135 Untested or unknown Untested or unknown ambiguous genitalia in 46, XX
Definite > 10,000 Untested or unknown <135 Untested or unknown Untested or unknown other hormonal evidence of CAH
Definite > 10,000 Untested or unknown Untested or unknown Elevated for age Untested or unknown Evidence of salt wasting (present in shock or severe failure to thrive)
Definite > 10,000 Untested or unknown Untested or unknown Elevated for age Untested or unknown ambiguous genitalia in 46, XX
Definite > 10,000 Untested or unknown Untested or unknown Elevated for age Untested or unknown other hormonal evidence of CAH
Definite Untested or unknown Untested or unknown Untested or unknown Untested or unknown two classic genemutations or deletions in trans Evidence of salt wasting (present in shock or severe failure to thrive)
Definite Untested or unknown Untested or unknown Untested or unknown Untested or unknown two classic gene mutations or deletions in trans ambiguous genitalia in 46, XX
Definite Untested or unknown Untested or unknown Untested or unknown Untested or unknown two classic gene mutations or deletions in trans other hormonal evidence of CAH
Definite Untested or unknown (mass spectrometry) indicative of 21-Hydroxylase Deficiency CAH Untested or unknown Untested or unknown Untested or unknown Evidence of salt wasting (present in shock or severe failure to thrive)
Definite Untested or unknown (mass spectrometry) indicative of 21-Hydroxylase Deficiency CAH Untested or unknown Untested or unknown Untested or unknown ambiguous genitalia in 46, XX
Definite Untested or unknown (mass spectrometry) indicative of 21-Hydroxylase Deficiency CAH Untested or unknown Untested or unknown Untested or unknown other hormonal evidence of CAH
Probable 1,000 -10,000 Untested or unknown < 135 Untested or unknown Untested or unknown Evidence of salt wasting (present in shock or severe failure to thrive)
Probable 1,000 -10,000 Untested or unknown < 135 Untested or unknown Untested or unknown ambiguous genitalia in 46,XX
Probable 1,000 -10,000 Untested or unknown < 135 Untested or unknown Untested or unknown other hormonal evidence of CAH
Probable 1,000 -10,000 Untested or unknown Untested or unknown Elevated for age Untested or unknown Evidence of salt wasting (present in shock or severe failure to thrive)
Possible 1,000 -10,000 Untested or unknown Untested or unknown Elevated for age Untested or unknown ambiguous genitalia in 46,XX
Possible 1,000 -10,000 Untested or unknown Untested or unknown Elevated for age Untested or unknown other hormonal evidence of CAH
21-Hydroxylase deficiency – classical simple virilizing
Category Serum 17-OHP- baseline or ACTH stimulated* Urinary Steroid profiling Serum Sodium mEq/L Plasma Renin Activity CYP21A2 Mutation Analysis If available - Supportive Clinical or Laboratory Evidence
Definite >10,000 Untested or unknown >135 Untested or unknown Untested or unknown Ambiguous genitalia in 46,XX
Definite >10,000 Untested or unknown >135 Untested or unknown Untested or unknown no evidence of salt wasting
Definite >10,000 Untested or unknown >135 Untested or unknown Untested or unknown other hormonal evidence of CAH
Definite >10,000 Untested or unknown Untested or unknown Normal for age Untested or unknown Ambiguous genitalia in 46,XX
Definite >10,000 Untested or unknown Untested or unknown Normal for age Untested or unknown no evidence of salt wasting
Definite >10,000 Untested or unknown Untested or unknown Normal for age Untested or unknown other hormonal evidence of CAH
Definite Untested or unknown (mass spectrometry) indicative of 21-Hydroxylase Deficiency CAH >135 Untested or unknown Untested or unknown Ambiguous genitalia in 46,XX
Definite Untested or unknown (mass spectrometry) indicative of 21-Hydroxylase Deficiency CAH >135 Untested or unknown Untested or unknown no evidence of salt wasting
Definite Untested or unknown (mass spectrometry) indicative of 21-Hydroxylase Deficiency CAH >135 Untested or unknown Untested or unknown other hormonal evidence of CAH
Definite Untested or unknown (mass spectrometry) indicative of 21-Hydroxylase Deficiency CAH Untested or unknown Normal for age Untested or unknown Ambiguous genitalia in 46,XX
Definite Untested or unknown (mass spectrometry) indicative of 21-Hydroxylase Deficiency CAH Untested or unknown Normal for age Untested or unknown no evidence of salt wasting
Definite Untested or unknown (mass spectrometry) indicative of 21-Hydroxylase Deficiency CAH Untested or unknown Normal for age Untested or unknown other hormonal evidence of CAH
Definite Untested or unknown Untested or unknown >135 Untested or unknown two classic gene mutations or deletions in trans Ambiguous genitalia in 46,XX
Definite Untested or unknown Untested or unknown >135 Untested or unknown two classic gene mutations or deletions in trans no evidence of salt wasting
Definite Untested or unknown Untested or unknown >135 Untested or unknown two classic gene mutations or deletions in trans other hormonal evidence of CAH
Definite Untested or unknown Untested or unknown Untested or unknown Normal for age two classic gene mutations or deletions in trans Ambiguous genitalia in 46,XX
Definite Untested or unknown Untested or unknown Untested or unknown Normal for age two classic gene mutations or deletions in trans no evidence of salt wasting
Definite Untested or unknown Untested or unknown Untested or unknown Normal for age two classic gene mutations or deletions in trans other hormonal evidence of CAH
Probable 1,000 -10,000 Untested or unknown >135 Untested or unknown Untested or unknown Ambiguous genitalia in 46,XX or normal genitalia in 46,XY
Probable 1,000 -10,000 Untested or unknown Untested or unknown Normal for age Untested or unknown Ambiguous genitalia in 46,XX or normal genitalia in 46,XY
Probable 1,000 -10,000 Untested or unknown Untested or unknown Untested or unknown Untested or unknown no evidence of salt wasting
* The results referenced should be obtained before the initiation of therapy.
Primary congenital hypothyroidism (CH)
Category Serum TSH mU/L* Serum Total or Free T4*
Definite TSH > 10 < age established reference range
Probable TSH > 10 normal T4/total T4
Probable TSH > 10 Untested or unknown
Possible** TSH 6-10 < age established reference range
Possible ** TSH 6-10 Normal
Possible ** TSH 6-10 Untested or unknown
Incomplete Untested or unknown Untested or unknown
Incomplete Untested or unknown < age established reference
* The results referenced should be obtained before the initiation of therapy.
** Since there can be overlap in these 2 categories (possible primary or probable secondary congenital hypothyroidism) based on the laboratory values, the treating clinician should determine which category.
Secondary congenital hypothyroidism (CH)
Category Serum TSH mU/L* Serum Total or Free T4* Other studies
Definite TSH < 10 < age established reference documentation of other pituitary hormone deficiencies or midline defects
Probable** TSH < 10 < age established reference range no other pituitary hormone deficiencies or midline defects
Possible Untested or unknown < age established reference range Documentation of other pituitary hormone deficiencies or midline defects
Possible TSH<10 Untested or unknown Documentation of other pituitary hormone deficiencies or midline defects
Incomplete Untested or unknown Untested or unknown Documentation of other pituitary hormone deficiencies or midline defects
Incomplete TSH<10 Untested or unknown no other pituitary hormone deficiencies or midline defects
Incomplete Untested or unknown < age established reference range no other pituitary hormone deficiencies or midline defects
* The results referenced should be obtained before the initiation of therapy.
** Since there can be overlap in these 2 categories (possible primary or probable secondary congenital hypothyroidism) based on the laboratory values, the treating clinician should determine which category.
TBG or other protein binding defect
Category Serum TSH mU/L Serum Free T4 Serum Total T4 Other studies
Definite normal Normal for age Low for age Low TBG
Definite normal Normal for age Low for age increased T3 or T4 resin uptake

Hemoglobin Disorder:

Sickle Cell Disorder
CC disease
Category Qualitative (IEF or HPLC) Quantiative (HPLC or electrophoresis) DNA NBS result CBC Family Studies Family history Hbg testing (Electrophoresis or HPLC) on family members
Definite Untested or unknown FC CC Untested or unknown Nml MCV Both carriers C Untested or unknown Untested or unknown
Definite FC Untested or unknown CC Untested or unknown Nml MCV Both carriers C Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown CC FC Nml MCV Both carriers C Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown CC Untested or unknown Untested or unknown Both Carriers C
Probable Untested or unknown FC Untested or unknown FC Untested or unknown Both carriers Untested or unknown Untested or unknown
Probable FC FC Untested or unknown Untested or unknown Untested or unknown Both Carriers C Untested or unknown Untested or unknown
Probable FC Untested or unknown Untested or unknown FC Untested or unknown Both carriers Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FC Nml MCV Untested or unknown Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FC Untested or unknown Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FC Untested or unknown Untested or unknown Untested or unknown positive
CD disease
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA NBS result Family Studies Family history HPLC& IEF same sample
Definite FCD Untested or unknown Known C and known D mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FCD Known C and known D mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Known C and known D mutation identified FCD Untested or unknown Untested or unknown Untested or unknown
Probable FCD FCD Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FCD Untested or unknown Untested or unknown FCD Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FCD Untested or unknown FCD Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FCD Both carriers (1 with D and 1 with E) Untested or unknown Untested or unknown
Probable FCD Untested or unknown Untested or unknown Untested or unknown Both carriers (1 with D and 1 with E) Untested or unknown Untested or unknown
Probable Untested or unknown FCD Untested or unknown Untested or unknown Both carriers (1 with D and 1 with E) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FCD Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown FCD
CE disease
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA NBS result Family Studies Family history HPLC& IEF same sample
Definite FCE Untested or unknown Known C and known E mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FCE Known C and known E mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Known C and known E mutation identified FCE Untested or unknown Untested or unknown Untested or unknown
Probable FCE FCE Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FCE Untested or unknown Untested or unknown FCE Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FCE Untested or unknown FCE Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FCE Both carriers (1 with C and 1 with E) Untested or unknown Untested or unknown
Probable FCE Untested or unknown Untested or unknown Untested or unknown Both carriers (1 with C and 1 with E) Untested or unknown Untested or unknown
Probable Untested or unknown FCE Untested or unknown Untested or unknown Both carriers (1 with C and 1 with E) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FCE Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown FCE
COArab disease
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA NBS result Family Studies Family history HPLC& IEF same sample
Definite FCOARAB Untested or unknown Known C and known OARAB mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FCOARAB Known C and known OARAB mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Known C and known OARAB mutation identified FCOARAB Untested or unknown Untested or unknown Untested or unknown
Probable FCOARAB FCOARAB Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FCOARAB Untested or unknown Untested or unknown FCOARAB Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FCOARAB Untested or unknown FCOARAB Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FCOARAB Both carriers (1 carrier C and 1 carrier OARAB) Untested or unknown Untested or unknown
Probable FCOARAB Untested or unknown Untested or unknown Untested or unknown Both carriers (1 carrier C and 1 carrier OARAB) Untested or unknown Untested or unknown
Probable Untested or unknown FCOARAB Untested or unknown Untested or unknown Both carriers (1 carrier C and 1 carrier OARAB) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FCOARAB Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown FCOARAB
DD disease
Category Qualitative (IEF or HPLC) Quantiative (HPLC or electrophoresis) DNA- NBS result CBC Family Studies Family history Hbg testing (Electrophoresis or HPLC) on family members
Definite FD Untested or unknown DD Untested or unknown Nml MCV Both carriers D Untested or unknown Untested or unknown
Definite Untested or unknown FD DD Untested or unknown Nml MCV Both carriers D Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown DD FD Nml MCV Both carriers D Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown DD Untested or unknown Untested or unknown Both Carriers D Untested or unknown Untested or unknown
Probable FD FD Untested or unknown Untested or unknown Untested or unknown Both carriers D Untested or unknown Untested or unknown
Probable Untested or unknown FD Untested or unknown FD Untested or unknown Both carriers Untested or unknown Untested or unknown
Probable FD Untested or unknown Untested or unknown FD Untested or unknown Both carriers Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FD Nml MCV Untested or unknown Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FD Untested or unknown Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FD Untested or unknown Untested or unknown Untested or unknown positive
DE disease
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA NBS result Family Studies Family history HPLC& IEF same sample
Definite FDE Untested or unknown Known D and known E mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FDE Known D and known E mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Known D and known E mutation identified FDE Untested or unknown Untested or unknown Untested or unknown
Probable FDE FDE Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FDE Untested or unknown Untested or unknown FDE Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FDE Untested or unknown FDE Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FDE Both carriers (1 carrier E and 1 carrier D) Untested or unknown Untested or unknown
Probable FDE Untested or unknown Untested or unknown Untested or unknown Both carriers (1 carrier E and 1 carrier D) Untested or unknown Untested or unknown
Probable Untested or unknown FDE Untested or unknown Untested or unknown Both carriers (1 carrier E and 1 carrier D) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FDE Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown FDE
DOArab disease
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA NBS result Family Studies Family history HPLC& IEF same sample
Definite FDOARAB Untested or unknown Known OARAB and known S mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FDOARAB Known OARAB and known S mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Known OARAB and known S mutation identified FDOARAB Untested or unknown Untested or unknown Untested or unknown
Probable FDOARAB FDOARAB Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FDOARAB Untested or unknown Untested or unknown FDOARAB Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FDOARAB Untested or unknown FDOARAB Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FDOARAB Both carriers (1 carrier C and 1 carrier OARAB) Untested or unknown Untested or unknown
Probable FDOARAB Untested or unknown Untested or unknown Untested or unknown Both carriers (1 carrier C and 1 carrier OARAB) Untested or unknown Untested or unknown
Probable Untested or unknown FDOARAB Untested or unknown Untested or unknown Both carriers (1 carrier C and 1 carrier OARAB) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FDOARAB Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown FDOARAB
EE disease
Category Qualitative (IEF or HPLC) Quantiative (HPLC or electrophoresis) DNA- no deletion/duplication analysis NBS result CBC Family Studies Family history Hbg testing (Electrophoresis or HPLC) on family members
Definite FE Untested or unknown EE Untested or unknown Nml MCV Both carriers E Untested or unknown Untested or unknown
Definite Untested or unknown FE EE Untested or unknown Nml MCV Both carriers E Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown EE FE Nml MCV Both carriers E Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown EE Untested or unknown Untested or unknown Both Carriers E Untested or unknown Untested or unknown
Probable FE FE Untested or unknown Untested or unknown Untested or unknown Both carriers E Untested or unknown Untested or unknown
Probable Untested or unknown FE Untested or unknown FE Untested or unknown Both carriers Untested or unknown Untested or unknown
Probable FE Untested or unknown Untested or unknown FE Untested or unknown Both carriers Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FE Nml MCV Untested or unknown Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FE Untested or unknown Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FE Untested or unknown Untested or unknown Untested or unknown positive
Homozygous OArab disease
Category Qualitative (IEF or HPLC) Quantiative (HPLC or electrophoresis) DNA- NBS result CBC Family Studies Family history Hbg testing (Electrophoresis or HPLC) on family members
Definite FOARAB Untested or unknown OARABOARAB Untested or unknown Nml MCV Both carriers OARAB Untested or unknown Untested or unknown
Definite Untested or unknown FOARAB OARABOARAB Untested or unknown Nml MCV Both carriers OARAB Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown OARABOARAB FOARAB Nml MCV Both carriers OARAB Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown OARABOARAB Untested or unknown Untested or unknown Both carriers OARAB Untested or unknown Untested or unknown
Probable FOARAB FOARAB Untested or unknown Untested or unknown Untested or unknown Both carriers OARAB Untested or unknown Untested or unknown
Probable Untested or unknown FOARAB Untested or unknown FOARAB Untested or unknown Both carriers Untested or unknown Untested or unknown
Probable FOARAB Untested or unknown Untested or unknown FOARAB Untested or unknown Both carriers Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FOARAB Nml MCV Untested or unknown Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FOARAB Untested or unknown Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FOARAB Untested or unknown Untested or unknown Untested or unknown positive
SC disease
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA NBS result Family Studies Family history HPLC& IEF same sample
Definite FSC Untested or unknown Known C and known S mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FSC Known C and known S mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Known C and known S mutation identified FSC Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Known C and known S mutation identified Untested or unknown Untested or unknown Untested or unknown FSC
Probable FSC FSC Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FSC Untested or unknown Untested or unknown FSC Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FSC Untested or unknown FSC Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FSC Both carriers ( 1 with C mutation and other with S mutation) Untested or unknown Untested or unknown
Probable FSC Untested or unknown Untested or unknown Untested or unknown Both carriers ( 1 with C mutation and other with S mutation) Untested or unknown Untested or unknown
Probable Untested or unknown FSC Untested or unknown Untested or unknown Both carriers ( 1 with C mutation and other with S mutation) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FSC Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown FSC
SD disease
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA NBS result Family Studies Family history HPLC& IEF same sample
Definite FSD Untested or unknown Known D and known S mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FSD Known D and known S mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Known D and known S mutation identified FSD Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Known D and known S mutation identified Untested or unknown Untested or unknown Untested or unknown FSD
Probable FSD FSD Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FSD Untested or unknown Untested or unknown FSD Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FSD Untested or unknown FSD Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FSD Both carriers ( 1 with known S mutation and 1 with known D mutation) Untested or unknown Untested or unknown
Probable FSD Untested or unknown Untested or unknown Untested or unknown Both carriers ( 1 with known S mutation and 1 with known D) Untested or unknown Untested or unknown
Probable Untested or unknown FSD Untested or unknown Untested or unknown Both carriers ( 1 with known S mutation and 1 with known D) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FSD Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown FSD
SE disease
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA NBS result Family Studies Family history HPLC& IEF same sample
Definite FSE Untested or unknown Known E and known S mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FSE Known E and known S mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Known E and known S mutation identified FSE Untested or unknown Untested or unknown Untested or unknown
Probable FSE FSE Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FSE Untested or unknown Untested or unknown FSE Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FSE Untested or unknown FSE Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FSE Both carriers ( 1 with known S mutation and 1 with known E) Untested or unknown Untested or unknown
Probable FSE Untested or unknown Untested or unknown Untested or unknown Both carriers ( 1 with known S mutation and 1 with knownE) Untested or unknown Untested or unknown
Probable Untested or unknown FSE Untested or unknown Untested or unknown Both carriers ( 1 with known S mutation and 1 with known E) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FSE Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown FSE
SOArab disease
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA NBS result Family Studies Family history HPLC& IEF same sample
Definite FSOARAB Untested or unknown Known OARABand known S mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FSOARAB Known OARABand known S mutation identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Known OARABand known S mutation identified FSOARAB Untested or unknown Untested or unknown Untested or unknown
Probable FSOARAB FSOARAB Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FSOARAB Untested or unknown Untested or unknown FSOARAB Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FSOARAB Untested or unknown FSOARAB Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FSOARAB Both carriers ( 1 with known S mutation and 1 with known OARAB) Untested or unknown Untested or unknown
Probable FSOARAB Untested or unknown Untested or unknown Untested or unknown Both carriers ( 1 with known S mutation and 1 with known OARAB) Untested or unknown Untested or unknown
Probable Untested or unknown FSOARAB Untested or unknown Untested or unknown Both carriers ( 1 with known S mutation and 1 with known OARAB) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FSOARAB Untested or unknown positive Untested or unknown
Poss ible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown FSOARAB
SS disease (Sickle cell anemia)
Category Qualitative (IEF or HPLC) Quantiative (HPLC or electrophoresis) DNA- NBS result CBC Family Studies Family history Hbg testing (Electrophoresis or HPLC) on family members
Definite FS Untested or unknown SS Untested or unknown Untested or unknown Both carriers S Untested or unknown Untested or unknown
Definite Untested or unknown FS SS Untested or unknown Untested or unknown Both carriers S Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown SS FS Untested or unknown Both carriers S Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown SS Untested or unknown Untested or unknown Both carriers S
Probable FS Untested or unknown Untested or unknown FS Nml- high MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FS Untested or unknown FS Untested or unknown Both carriers S Untested or unknown Untested or unknown
Probable FS Untested or unknown Untested or unknown FS Untested or unknown Both carriers S Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FS Nml- high MCV Untested or unknown Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FS Untested or unknown Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FS Untested or unknown Untested or unknown Untested or unknown positive

Hemoglobin Disorder:

Beta Thalassemia Disorder
Beta + Thal
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history HPLC & IEF same sample
Definite Untested or unknown Untested or unknown SBeta + THAL FSA or FS Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite FSAA2 Untested or unknown SBeta + THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FSA with high A2 SBeta + THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FSAA2 FSA with high A2 Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FSAA2 Untested or unknown Untested or unknown FSA or FS Untested or unknown Both carriers (1 each of Beta + THAL and S) Untested or unknown Untested or unknown
Probable Untested or unknown FSA with high A2 Untested or unknown FSA or FS Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FSAA2 Untested or unknown Untested or unknown FSA or FS Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FS FSA Untested or unknown Untested or unknown Untested or unknown Both carriers (1 each of Beta + THAL and S) Untested or unknown Untested or unknown
Probable FSAA2 x2 Untested or unknown Untested or unknown FSA or FS Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FSA FSA Untested or unknown Untested or unknown Untested or unknown Both carriers (1 each of Beta + THAL and S) Untested or unknown Untested or unknown
Probable Untested or unknown FSA with high A2 Untested or unknown Untested or unknown Low MCV Both carriers (1 each of Beta + THAL and S) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FSA or FS Low MCV Both carriers (1 each of Beta + THAL and S) Untested or unknown Untested or unknown
Possible Untested or unknown FSA Untested or unknown Untested or unknown Low MCV Both carriers (1 each of Beta + THAL and S) Untested or unknown Untested or unknown
Possible FSAA2 Untested or unknown Untested or unknown Untested or unknown Low MCV Both carriers (1 each of Beta + THAL and S) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FSA or FS Low MCV Untested or unknown Positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Low MCV Untested or unknown Untested or unknown FSAA2
Beta Thal Major
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history
Definite Untested or unknown Untested or unknown Homozygous for Point Mutation F Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown 1 Point Mutation and 1 Partial Deletion F Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown 2 Partial Deletions F Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown 2 heterozygous point mutations F Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown High A2 (higher than normal) Untested or unknown F Low MCV Both carriers Untested or unknown
Probable F or FA (smaller A than expected) Untested or unknown Untested or unknown F Low MCV Both carriers Untested or unknown
Probable F or FA (smaller A than expected) High A2 (higher than normal) Untested or unknown F Low MCV Untested or unknown Untested or unknown
Possible F Untested or unknown Untested or unknown Untested or unknown Low MCV Both carriers Untested or unknown
Possible Untested or unknown High A2 (higher than normal) Untested or unknown Untested or unknown Low MCV- Both Carriers Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown F Low MCV- Untested or unknown positive
C Beta (0) Thal
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history HPLC & IEF same sample
Definite Untested or unknown Untested or unknown C Beta 0 THAL FCA2 or FC Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite FCA2 Untested or unknown C Beta 0 THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FC high A2 C Beta 0 THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FCA2 or FC FC high A2 Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FCA2 or FC Untested or unknown Untested or unknown FCA2 or FC Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FC high A2 Untested or unknown FCA2 or FC Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FCA2 Untested or unknown Untested or unknown FCA2 or FC Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FCA2 or FC Low MCV Both carriers (1 each of BetaTHAL and Beta C) Untested or unknown Untested or unknown
Probable FCA2 or FC x2 Untested or unknown Untested or unknown Untested or unknown Low MCV Both carriers (1 each of BetaTHAL and Beta C) Untested or unknown Untested or unknown
Probable Untested or unknown FC high A2 Untested or unknown Untested or unknown Low MCV Both carriers (1 each of BetaTHAL and Beta C) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FCA2 or FC Low MCV Untested or unknown Positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Low MCV Untested or unknown Untested or unknown FCA2
C Beta + Thal
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history HPLC & IEF same sample
Definite Untested or unknown Untested or unknown C Beta + Thal FCA or FC Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite FCAA2 Untested or unknown C Beta + Thal Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FCA with high A2 C Beta + Thal Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FCAA2 FCA with high A2 Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FCAA2 Untested or unknown Untested or unknown FCA or FC Untested or unknown Both carriers (1 with Beta + thal and one for C) Untested or unknown Untested or unknown
Probable Untested or unknown FCA with high A2 Untested or unknown FCA or FC Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FCAA2 Untested or unknown Untested or unknown FCA or FC Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FCA FCA Untested or unknown Untested or unknown Untested or unknown Both carriers (1 with Beta + thal and one for C) Untested or unknown Untested or unknown
Probable FCAA2 x2 Untested or unknown Untested or unknown FCA or FC Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FCA FCA Untested or unknown Untested or unknown Untested or unknown Both carriers (1 with Beta + thal and one for C) Untested or unknown Untested or unknown
Probable Untested or unknown FCA with high A2 Untested or unknown Untested or unknown Low MCV Both carriers (1 with Beta + thal and one for C) Untested or unknown Untested or unknown
Possible Untested or unknown FCA Untested or unknown Untested or unknown Low MCV Both carriers (1 with Beta + thal and one for C) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FCA or FC Low MCV Both carriers (1 with Beta + thal and one for C) Untested or unknown Untested or unknown
Possible FCAA2 Untested or unknown Untested or unknown Untested or unknown Low MCV Both carriers (1 with Beta + thal and one for C) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FCA or FC Low MCV Untested or unknown Positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Low MCV Untested or unknown Untested or unknown FCAA2
D Beta (0) Thal
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history HPLC & IEF same sample
Definite Untested or unknown Untested or unknown D Beta 0 Thal FDA2 or FD Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite FDA2 Untested or unknown D Beta 0 THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FD high A2 D Beta 0 THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FDA2 FD high A2 Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FDA2 Untested or unknown Untested or unknown FDA2 or FD Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FD high A2 Untested or unknown FDA2 or FD Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FDA2 or FD x 2 Untested or unknown Untested or unknown FDA2 or FD Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FDA2 or FD Low MCV Both carriers (1 each of BetaTHAL and Beta D) Untested or unknown Untested or unknown
Probable FDA2x2 Untested or unknown Untested or unknown Untested or unknown Low MCV Both carriers (1 each of BetaTHAL and Beta D) Untested or unknown Untested or unknown
Probable Untested or unknown FD high A2 Untested or unknown Untested or unknown Low MCV Both carriers (1 each of BetaTHAL and Beta D) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FDA2 or FD Low MCV Untested or unknown Positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Low MCV Untested or unknown Untested or unknown FDA2
D Beta + Thal
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history HPLC & IEF same sample
Definite Untested or unknown Untested or unknown D Beta + Thal FDA or FD Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite FDAA2 Untested or unknown D Beta + THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FDA with high A2 D Beta + THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FDAA2 FDA with high A2 Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FDAA2 Untested or unknown Untested or unknown FDA or FD Untested or unknown Both carriers (1 with Beta + thal and one for D) Untested or unknown Untested or unknown
Probable Untested or unknown FDA with high A2 Untested or unknown FDA or FD Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FDAA2 Untested or unknown Untested or unknown FDA or FD Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FD FDA Untested or unknown Untested or unknown Untested or unknown Both carriers (1 with Beta + thal and one for D) Untested or unknown Untested or unknown
Probable FDAA2 x2 Untested or unknown Untested or unknown FDA or FD Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FDA FDA Untested or unknown Untested or unknown Untested or unknown Both carriers (1 with Beta + thal and one for D) Untested or unknown Untested or unknown
Probable Untested or unknown FDA with high A2 Untested or unknown Untested or unknown Low MCV Both carriers (1 with Beta + thal and one for D) Untested or unknown Untested or unknown
Possible Untested or unknown FDA Untested or unknown Untested or unknown Low MCV Both carriers (1 with Beta + thal and one for D) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FDA or FD Low MCV Both carriers (1 with Beta + thal and one for D) Untested or unknown Untested or unknown
Possible FDAA2 x2 Untested or unknown Untested or unknown Untested or unknown Low MCV Both carriers (1 with Beta + thal and one for D) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FDA or FD Low MCV Untested or unknown Positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Low MCV Untested or unknown Untested or unknown FDAA2 x2
E Beta (0) Thal
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history HPLC & IEF same sample
Definite Untested or unknown Untested or unknown EBeta 0 THAL FEA2 or FE Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite FEA2 or FE Untested or unknown EBeta 0 THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FE high A2 EBeta 0 THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FEA2 or FE FE high A2 Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FEA2 or FE Untested or unknown Untested or unknown FEA2 or FE Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FE high A2 Untested or unknown FEA2 or FE Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FE FE high A2 Untested or unknown Untested or unknown Untested or unknown Both carriers (1 each of BetaTHAL and Beta S) Untested or unknown Untested or unknown
Probable FEA2 Untested or unknown Untested or unknown FEA2 or FE Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FEA2 or FE Low MCV Both carriers (1 each of BetaTHAL and Beta S) Untested or unknown Untested or unknown
Probable FEA2 or FE x2 Untested or unknown Untested or unknown Untested or unknown Low MCV Both carriers (1 each of BetaTHAL and Beta S) Untested or unknown Untested or unknown
Probable Untested or unknown FE high A2 Untested or unknown Untested or unknown Low MCV Both carriers (1 each of BetaTHAL and Beta S) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FEA2 or FE Low MCV Untested or unknown Positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Low MCV Untested or unknown Untested or unknown FEA2
E Beta + Thal
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history HPLC & IEF same sample
Definite Untested or unknown Untested or unknown E Beta + Thal FEA or FE Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite FEAA2 Untested or unknown E Beta + Thal Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FEA with high A2 E Beta + Thal Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FEAA2 FEA with high A2 Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FEAA2 Untested or unknown Untested or unknown FEA or FE Untested or unknown Both carriers (1 with Beta + thal and one for E) Untested or unknown Untested or unknown
Probable Untested or unknown FEA with high A2 Untested or unknown FEA or FE Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FEAA2 Untested or unknown Untested or unknown FEA or FE Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FE FEA Untested or unknown Untested or unknown Untested or unknown Both carriers (1 with Beta + thal and one for E) Untested or unknown Untested or unknown
Probable FEAA2x2 Untested or unknown Untested or unknown FEA or FE Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FEA FEA Untested or unknown Untested or unknown Untested or unknown Both carriers (1 with Beta + thal and one for E) Untested or unknown Untested or unknown
Probable Untested or unknown FEA with high A2 Untested or unknown Untested or unknown Low MCV Both carriers (1 with Beta + thal and one for E) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FEA or FE Low MCV Both carriers (1 with Beta + thal and one for E) Untested or unknown Untested or unknown
Possible FEAA2x2 Untested or unknown Untested or unknown Untested or unknown Low MCV Both carriers (1 with Beta + thal and one for E) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FEA or FE Low MCV Untested or unknown Positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Low MCV Untested or unknown Untested or unknown FEAA2x2
FCHPFH
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history
Definite Untested or unknown Untested or unknown 1 mutation With known C mutation FC Low MCV Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown 1 deletion and known C mutation FC Low MCV Untested or unknown Untested or unknown
Probable FC FC Untested or unknown Untested or unknown Low MCV Documented carriers of HPFH and C Untested or unknown
Probable FC Untested or unknown Untested or unknown FC Low MCV Documented carriers of HPFH and C Untested or unknown
Possible Untested or unknown FC Untested or unknown FC Low MCV Untested or unknown Untested or unknown
Possible FC Untested or unknown Untested or unknown FC Low MCV Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FC Low MCV Documented carriers of HPFH and C Untested or unknown
Possible FC Untested or unknown Untested or unknown Untested or unknown Low MCV Documented carriers of HPFH and C Untested or unknown
Possible Untested or unknown FC Untested or unknown Untested or unknown Low MCV Documented carriers of HPFH and C Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FC Low MCV Untested or unknown Positive
FEHPFH
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history
Definite Untested or unknown Untested or unknown 1 deletion and known E mutation FE Low MCV Untested or unknown Untested or unknown
Probable FE FE Untested or unknown Untested or unknown Low MCV Documented carriers of HPFH and E Untested or unknown
Probable FE Untested or unknown Untested or unknown FE Low MCV Documented carriers of HPFH and E Untested or unknown
Probable Untested or unknown FE Untested or unknown FE Low MCV Documented carriers of HPFH and E Untested or unknown
Possible FE Untested or unknown Untested or unknown FE Low MCV Untested or unknown Untested or unknown
Possible FE Untested or unknown Untested or unknown FE Low MCV Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FE Low MCV Documented carriers of HPFH and E Untested or unknown
Possible FE Untested or unknown Untested or unknown Untested or unknown Low MCV Documented carriers of HPFH and E Untested or unknown
Possible Untested or unknown FE Untested or unknown Untested or unknown Low MCV Documented carriers of HPFH and E Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FE Low MCV Untested or unknown Positive
C and E will not have normal MCV with HPFH - do not reference MCV
FOArabHPFH
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history
Definite Untested or unknown Untested or unknown 1 mutation With known OARAB mutation FOARAB Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown 1 deletion and known OARAB mutation FOARAB Untested or unknown Untested or unknown Untested or unknown
Probable FOARAB FOARAB Untested or unknown Untested or unknown Untested or unknown Documented carriers of HPFH and OARAB Untested or unknown
Probable FOARAB Untested or unknown Untested or unknown FOARAB Untested or unknown Untested or unknown Untested or unknown
Probable Untested or Unknown FOARAB Untested or unknown FOARAB Untested or unknown Untested or unknown Untested or unknown
Probable FOARAB Untested or unknown Untested or unknown FOARAB Untested or unknown Documented carriers of HPFH and OARAB Untested or unknown
Possible FOARAB Untested or Untested or unknown FOARAB Normal MCV Untested or Untested or
unknown unknown unknown
Possible Untested or unknown FOARAB Untested or unknown FOARAB Normal MCV Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FOARAB Normal MCV Documented carriers of HPFH and OARAB Untested or unknown
Possible FOARAB Untested or unknown Untested or unknown Untested or unknown Normal MCV Documented carriers of HPFH and OARAB Untested or unknown
Possible Untested or unknown FOARAB Untested or unknown Untested or unknown Normal MCV Documented carriers of HPFH and OARAB Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FOARAB Normal MCV Untested or unknown Positive
FSHPFH
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history
Definite Untested or unknown Untested or unknown 1 mutation With known S mutation FS Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown 1 deletion and known S mutation FS Untested or unknown Untested or unknown Untested or unknown
Probable FS FS Untested or unknown Untested or unknown Untested or unknown Documented carriers of HPFH and S Untested or unknown
Possible Untested or unknown FS Untested or unknown FS Untested or unknown Untested or unknown Untested or unknown
Probable FS Untested or unknown Untested or unknown FS Untested or unknown Documented carriers of HPFH and S Untested or unknown
Possible FS Untested or unknown Untested or unknown FS Normal MCV Untested or unknown Untested or unknown
Possible Untested or unknown FS Untested or unknown FS Normal MCV Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FS Normal MCV Documented carriers of HPFH and S Untested or unknown
Possible FS Untested or unknown Untested or unknown Untested or unknown Normal MCV Documented carriers of HPFH and S Untested or unknown
Possible Untested or unknown FS Untested or unknown Untested or unknown Normal MCV Documented carriers of HPFH and S Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FS Normal MCV Untested or unknown Positive
HPFH
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history
Definite Untested or unknown Untested or unknown Homozygous for Point Mutation F Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown 1 Point Mutation and 1 Deletion F Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown 2 Deletions F Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown 2 heterozygous point mutations F Untested or unknown Untested or unknown Untested or unknown
Probable F F Untested or unknown Untested or unknown Untested or unknown Both Carriers Untested or unknown
Probable F Untested or unknown Untested or unknown F Untested or unknown Both Carriers Untested or unknown
Probable Untested or unknown F Untested or unknown F Untested or unknown Both Carriers Untested or unknown
Probable F Untested or unknown Untested or unknown F Untested or unknown Both Carriers Untested or unknown
Possible F Untested or unknown Untested or unknown F Normal MCV Untested or unknown Untested or unknown
Possible Untested or unknown F Untested or unknown F Normal MCV Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown F Normal MCV Both carriers Untested or unknown
Possible F Untested or unknown Untested or unknown Untested or unknown Normal MCV Both carriers Untested or unknown
Possible Untested or unknown F Untested or unknown Untested or unknown Normal MCV Both carriers Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown F Normal MCV Untested or unknown Positive
O Arab Beta (0) Thal
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history HPLC & IEF same sample
Definite Untested or unknown Untested or unknown OArab Beta 0 THAL FOARABA2 or FOARAB Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite FOARABA2 Untested or unknown OArab Beta 0 THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FOARAB High A2 OArab Beta 0 THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FOARABA2 FOARAB High A2 Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FOARABA2 Untested or unknown Untested or unknown FOARABA2 or FOARAB Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FOARAB High A2 Untested or unknown FOARABA2 or FOARAB Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FOARABA2 x2 Untested or unknown Untested or unknown FOARABA2 or FOARAB Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FOARABA2 or FOARAB Low MCV Both carriers (1 each of BetaTHAL and Beta O Arab) Untested or unknown Untested or unknown
Probable FOARABA2 x2 Untested or unknown Untested or unknown Untested or unknown Low MCV Both carriers (1 each of BetaTHAL and Beta O Arab) Untested or unknown Untested or unknown
Probable Untested or unknown FOARAB High A2 Untested or unknown Untested or unknown Low MCV Both carriers (1 each of BetaTHAL and Beta O Arab) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FOARABA2 or FOARAB Low MCV Untested or unknown Positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Low MCV Untested or unknown Untested or unknown FOARABA2
O Arab Beta +Thal
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history HPLC & IEF same sample
Definite Untested or unknown Untested or unknown OArab Beta + THAL FOARABA or FOARAB Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite FOARABAA2 Untested or unknown OArab Beta + THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FOARAB A with high A2 OArab Beta + THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FOARABAA2 FOARAB A with high A2 Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FOARABAA2 x2 Untested or unknown Untested or unknown FOARABA or FOARAB Untested or unknown Both carriers (1 Beta + Thal and OARAB Untested or unknown Untested or unknown
Probable Untested or unknown FOARAB A with high A2 Untested or unknown FOARABA or FOARAB Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FOARABAA2 Untested or unknown Untested or unknown FOARABA or FOARAB Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FOARAB FOARABA Untested or unknown Untested or unknown Untested or unknown Both carriers (1 Beta + Thal and OARAB Untested or unknown Untested or unknown
Probable FOARABAA2 x2 Untested or unknown Untested or unknown FOARABA or FOARAB Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FOARABA FOARABA Untested or unknown Untested or unknown Untested or unknown Both carriers (1 Beta + Thal and OARAB Untested or unknown Untested or unknown
Probable Untested or unknown FOARAB A with high A2 Untested or unknown Untested or unknown Low MCV Both carriers (1 Beta + Thal and OARAB Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FOARABA or FOARAB Low MCV Both carriers (1 Beta + Thal and OARAB Untested or unknown Untested or unknown
Possible Untested or unknown FOARAB A Untested or unknown Untested or unknown Low MCV Both carriers (1 Beta + Thal and OARAB Untested or unknown Untested or unknown
Possible FOARABAA2 Untested or unknown Untested or Untested or Low MCV Both carriers (1 Beta + Thal and OARAB Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FOARABAA2 Low MCV Untested or unknown Positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Low MCV Untested or unknown Untested or unknown FOARABAA2
S Beta (0) Thal
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history HPLC & IEF same sample
Definite Untested or unknown Untested or unknown SBeta 0 THAL FSA2 or FS Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite FSA2 or FS Untested or unknown SBeta 0 THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FS high A2 SBeta 0 THAL Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FSA2 or FS FS high A2 Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FSA2 or FS Untested or unknown Untested or unknown FSA2 or FS Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FS high A2 Untested or unknown FSA2 or FS Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FS FS high A2 Untested or unknown Untested or unknown Untested or unknown Both carriers (1 each of BetaTHAL and Beta S) Untested or unknown Untested or unknown
Probable FSA2 or FS Untested or unknown Untested or unknown FSA2 or FS Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FSA2 or FS Low MCV Both carriers (1 each of BetaTHAL and Beta S) Untested or unknown Untested or unknown
Probable FSA2 or FS x2 Untested or unknown Untested or unknown Untested or unknown Low MCV Both carriers (1 each of BetaTHAL and Beta S) Untested or unknown Untested or unknown
Probable Untested or unknown FS high A2 Untested or unknown Untested or unknown Low MCV Both carriers (1 each of BetaTHAL and Beta S) Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FSA2 or FS Low MCV Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Low MCV Untested or unknown Untested or unknown FSA2

Hemoglobin Disorder:

Alpha Thalassemia Disorder
C Alpha Thal
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history HPLC& IEF same sample
Definite FC+Barts Untested or unknown Known C mutation and Deletion in alpha gene Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FC+Barts Known C mutation and Deletion in alpha gene Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Known C mutation and Deletion in alpha gene FC+Barts Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FC+Barts FC+Barts Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FC+Barts Untested or unknown Untested or unknown FC+Barts Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FC+Barts Untested or unknown FC+Barts Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FC+Barts Untested or unknown Untested or unknown FC+Barts Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FC+Barts Low MCV Both carriers Untested or unknown Untested or unknown
Probable FC+Barts Untested or unknown Untested or unknown Untested or unknown Low MCV Both carriers Untested or unknown Untested or unknown
Probable Untested or unknown FC+Barts Untested or unknown Untested or unknown Low MCV Both Carriers Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FC+Barts Low MCV Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Low MCV Untested or unknown Untested or unknown FC+Barts
D Alpha Thal
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history HPLC& IEF same sample
Definite FD+Barts Untested or unknown Known C mutation and Deletion in alpha gene Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FD+Barts Known C mutation and Deletion in alpha gene Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Known C mutation and Deletion in alpha gene FD + Barts Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FD+Barts FD+Barts Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FD+Barts Untested or unknown Untested or unknown FD+Barts Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FD+Barts Untested or unknown FD+Barts Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FD+Barts Low MCV Both carriers Untested or unknown Untested or unknown
Probable FD+Barts Untested or unknown Untested or unknown Untested or unknown Low MCV Both carriers Untested or unknown Untested or unknown
Probable Untested or unknown FD+Barts Untested or unknown Untested or unknown Low MCV Both Carriers Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FD+Barts Low MCV Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Low MCV Untested or unknown Untested or unknown FD+Barts
3 Deletion Alpha Thalassemia (Hgb H disease)
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA-based testing NBS Result CBC Results Family DNA Studies Family history HPLC& IEF same sample
Definite Untested or unknown > 25% Barts by HPLC in newborn period 3 alpha gene defects (deletions or mutations) Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown 3 alpha gene defects (deletions or mutations) Barts or Hgb H Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown Barts or Hgb H Low MCV Parents with known carriers of 2 gene deletion and 1 gene deletion or point mutation History of SAB/miscarriage or early termination of pregnancy Untested or unknown
Probable Persistent Barts Untested or unknown Untested or unknown Barts or Hgb H Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Persistent Barts Untested or unknown Barts or Hgb H Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable Elevated Hgb H Untested or unknown Untested or unknown Barts or Hgb H Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Elevated Hgb H Untested or unknown Barts or Hgb H Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Possible Nml Untested or unknown Untested or unknown Barts or Hgb H Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Possible Untested or unknown Nml Untested or unknown Barts or Hgb H Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Hgb H Constant Spring (2 alpha gene deletion (cis) plus Constant Spring point mutation (trans)
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family DNA Studies Family history HPLC& IEF same sample
Definite Constant Spring band identified Untested or unknown 3 alpha gene deletions and Constant spring mutation Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Constant Spring band identified 3 alpha gene deletions and Constant spring mutation Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown 3 alpha gene deletions and Constant spring mutation Barts or Hgb H Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable Constant Spring band identified Untested or unknown Untested or unknown Barts or Hgb H Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Constant Spring band identified Untested or unknown Barts or Hgb H Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown Barts or Hgb H Low MCV Parents with known carriers of 2 gene and 1 gene deletion and one with Constant Spring mutation Untested or unknown Untested or unknown
Probable Untested or unknown Constant Spring band identified Untested or unknown Untested or unknown Untested or unknown Parents with known carriers of 2 gene and 1 gene deletion and one with Constant Spring mutation Untested or unknown Untested or unknown
Probable Constant Spring band identified Untested or unknown Untested or unknown Untested or unknown Untested or unknown Parents with known carriers of 2 gene and 1 gene deletion and one with Constant Spring mutation Untested or unknown Untested or unknown
Possible Nml Untested or unknown Untested or unknown Barts or Hgb H Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Possible Untested or unknown Nml Untested or unknown Barts or Hgb H Untested or unknown Untested or unknown Untested or unknown Untested or unknown
OArab Alpha Thal
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history HPLC& IEF same sample
Definite FOARAB+Barts Untested or unknown Known OArab mutation and Deletion in alpha gene Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FOARAB+Barts Known OArab mutation and Deletion in alpha gene Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Known OArab mutation and Deletion in alpha gene FOARAB+Barts Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FOARAB+Barts Untested or unknown FOARAB+Barts Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FOARABTraceAA2 FOARAB+Barts Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FOARAB+Barts Untested or unknown Untested or unknown FOARAB+Barts Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FOARAB+Barts Low MCV Both carriers Untested or unknown Untested or unknown
Probable FOARAB+Barts Untested or unknown Untested or unknown Untested or unknown Low MCV Both carriers Untested or unknown Untested or unknown
Probable Untested or unknown FOARAB+Barts Untested or unknown Untested or unknown Low MCV Both Carriers Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown FOARAB+Barts Low MCV Untested or unknown positive Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Low MCV Untested or unknown Untested or unknown FOARAB+Barts
S Alpha Thal
Category Qualitative (IEF or HPLC) Quantitative (HPLC or electrophoresis) DNA sequencing and deletion NBS result CBC Results Family Studies Family history HPLC& IEF same sample
Definite FS+Barts Untested or unknown Homozygous S mutation and pathological gene changes found in 1-3 of the alpha genes Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown FS+Barts Homozygous S mutation and pathological gene changes found in 1-3 of the alpha genes Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Definite Untested or unknown Untested or unknown Homozygous S mutation and pathological gene changes found in 1-3 of the alpha genes FS + Barts Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FS+Barts FS+Barts Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown Untested or unknown
Probable FS+Barts Untested or unknown Untested or unknown FS+Barts Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown FS+Barts Untested or unknown FS+Barts Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable FS+Barts x2 Untested or unknown Untested or unknown FS+Barts Low MCV Untested or unknown Untested or unknown Untested or unknown
Probable Untested or unknown Untested or unknown Untested or unknown FS+Barts Low MCV Both parents with AS & amount of S <35%; low MCH & ruled out iron deficiency Untested or unknown Untested or unknown
Probable FS+Barts Untested or unknown Untested or unknown Untested or unknown Low MCV Both parents with AS & amount of S <35%; low MCH & ruled out iron deficiency Untested or unknown Untested or unknown
Probable Untested or unknown FS+Barts Untested or unknown Untested or unknown Low MCV Both parents wh AS & amount of S <35%; low MCH & ruled out iron deficiency Untested or unknown Untested or unknown
Possible Untested or unknown Untested or unknown Untested or unknown Untested or unknown Low MCV Untested or unknown Untested or unknown FS+Barts

Lysosomal Storage Disorder

Mucopolysaccharidosis I (MPS I)
Classification Disorder Mutation Status Enzyme Activity Urine GAGS Clinical Symptoms/ Lab Findings
Definite MPS I - severe Allele 1 - pathogenic* and associated with severe disease and Allele 2 - pathogenic and associated with severe disease # Within lab known affected range Elevated
Definite MPS I - severity not determined Allele 1 - pathogenic* or likely pathogenic and Allele 2 - variant with uncertain significance Within lab known affected range Elevated
Definite MPS I - severity not determined Not Done/unknown Within lab known affected range Elevated
Probable MPS I - severe Allele 1 - pathogenic* and associated with severe disease and Allele 2 - pathogenic* and associated with severe disease # Within lab known affected range Not done/ UKNOWN
Probable MPS I - severe Allele 1 - pathogenic* and associated with severe disease and Allele 2 - pathogenic* and associated with severe disease # Unknown Not done/ UKNOWN
Definite MPS I Attenuated Allele 1 - pathogenic* and associated with severe disease and Allele 2 - variant known to be associated with ATTENUATED Disease # Within lab known affected range Elevated Symptoms present and documented by specialists. PH program continued to collect data through the development of symptoms**
Definite MPS I Attenuated Allele 1 - variant known to be associated with ATTENUATED Disease and Allele 2 - variant known to be associated with ATTENUATED Disease # Within lab known affected range Elevated
Probable MPS I Attenuated Allele 1 - pathogenic* and associated with severe disease and Allele 2 - variant known to be associated with ATTENUATED Disease # Unknown/Not Done Unknown/Not Done Symptoms present and documented by specialists. PH program continued to collect data through the development of symptoms**
Possible MPS I Attenuated Allele 1 - pathogenic* and associated with severe disease and Allele 2 - variant known to be associated with ATTENUATED Disease # Within lab known affected range Not done/ UKNOWN UKNOWN
Possible MPS I Attenuated Allele 1 - pathogenic* and associated with severe disease and Allele 2 - variant known to be associated with ATTENUATED Disease # Unknown Not done/ UKNOWN
Possible MPS I - severity not determined Allele 1 - pathogenic* and associated with severe disease and Allele 2 - variant of unknown significance Unknown Not done/ UKNOWN Symptoms present and documented by specialists. PH program continued to collect data through the development of symptoms**
Possible MPS I Attenuated Allele 1 - pathogenic* and associated with severe disease and Allele 2 - variant of unknown significance Unknown Not done/ UKNOWN No symptoms by the time the PH Program closes follow-up (either due to child being lost to follow-up OR program policy on follow-up time
*Pathogenic: Reported in cases known to have severe cases previously.
# All reports of two variants determined to be disease causing are assumed to bin in trans, and appropriate testing was completed as necessary
** Clinical symptoms consistent with MPS I include: Hepatosplenomegaly, Coarse facial features, Hydrocephalus, Skeletal deformities (dysostosis multiplex), Corneal clouding, Large tongue, Prominent forehead, Joint stiffness, Short stature, frequent ear infections and hearing loss, hernia
Pompe Disease
Classification Disorder Mutation Status Blood (not DBS sample) Skin/Muscle testing Cardiac Involvement consistent with Pompe Lab Findings Clinical Findings
Definite Infantile Onsent Pompe Disease Allele 1 - pathogenic and associated with infantile onset and Allele 2 - pathogenic and associated with infantile onset Within lab known affected range for infantile onset (IO) Not done or positive skin or muscle bx Positive findings on Chest X-ray/EKG/ECHO in newborn period Unknown/ Not Done
Definite Infantile Onsent Pompe Disease Unknown or not done Within lab known affected range for IO Not done or positive skin or muscle bx Positive findings on Chest X-ray/EKG/ECHO in newborn period Elevated CK/AST/ALT/LDH/Urine Hex4
Definite Infantile Onsent Pompe Disease Allele 1 - pathogenic and associated with infantile onset, 1 novel variant that is likely pathogenic Within lab known affected range for IO Not done or positive skin or muscle bx Positive findings on Chest X-ray/EKG/ECHO in newborn period Elevated CK/AST/ALT/LDH/Urine Hex4
Definite Infantile Onsent Pompe Disease Allele 1 - pathogenic and associated with infantile onset and Allele 2 - pathogenic and associated with infantile onset Within lab known affected range for IO Not done or positive skin or muscle bx Positive findings on Chest X-ray/EKG/ECHO in newborn period Elevated CK/AST/ALT/LDH/Urine Hex4
Definite Infantile Onsent Pompe Disease 1 pathogenic* or likely pathogenic variant, with deletion or duplication consistent with infantile onset Within lab known affected range for IO Not done Positive findings on Chest X-ray/EKG/ECHO in newborn period Elevated CK/AST/ALT/LDH/Urine Hex4
Definite Infantile Onsent Pompe Disease Allele 1 - pathogenic and associated with infantile onset and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significance Low (above affected range, for IO, may or may not be in late-onset (LO) range but should not be above LO range) Positive skin or muscle bx Positive findings on Chest X-ray/EKG/ECHO in newborn period Elevated CK/AST/ALT/LDH/Urine Hex4
Probable Infantile Onsent Pompe Disease Allele 1 - pathogenic and associated with infantile onset and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significance Within lab known affected range for IO Unknown/ not done Positive findings on Chest X-ray/EKG/ECHO Unknown/ Not Done
Probable Infantile Onsent Pompe Disease 1 pathogenic* or likely pathogenic variant, no other variants found, dup/del testing not done or not known Within lab known affected range for IO Unknown/ not done Positive findings on Chest X-ray/EKG/ECHO Elevated CK/AST/ALT/LDH/Urine Hex4
Definite Late Onset Pompe disease Allele 1 - pathogenic and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significance Within lab known affected range for LO Unknown/ not done No Elevated CK/AST/ALT/LDH/Urine Hex4 Symptoms present after 1 year of age and documented by specialists. PH program continued to collect data through the development of symptoms**
Definite Late Onset Pompe disease Allele 1 - pathogenic and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significance Within lab known affected range for LO Unknown/ not done No Elevated CK/AST/ALT/LDH/Urine Hex4 Symptoms present before 1 year of age but no cardiac involvement
Probable Late Onset Pompe disease Allele 1 - pathogenic and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significance Within lab known affected range for LO Unknown/ not done No Elevated CK/AST/ALT/LDH/Urine Hex4 Unknown or not reported to PH to program by the end of follow-up
Possible Late Onset Pompe disease Allele 1 - pathogenic* and associated with infantile onset and Allele 2 - pathogenic* Low (above affected range, for LO not normal) Unknown/ not done No Not present
Possible Late Onset Pompe disease Allele 1 - pathogenic* and associated with infantile onset, no other variants detected; Duplication/deletion testing not completed or unknown Within lab known affected range for LO Unknown/ not done No Not present
Definite Late Onset Pompe disease Allele 1 - pathogenic* and associated with infantile onset, no other variants detected; Duplication/deletion testing not completed or unknown Within lab known affected range for LO Unknown/ not done No Elevated CK/AST/ALT/LDH/Urine Hex4 Symptoms present after 1 year of age and documented by specialists. PH program continued to collect data through the development of symptoms**
Possible Late Onset Pompe disease 1 pathogenic* or likely pathogenic variant, no other variants found Within lab known affected range Unknown/ not done No Elevated CK/AST/ALT/LDH/Urine Hex4
Possible Late Onset Pompe disease 2 pathogenic* or likely pathogenic variant, no other variants found Within lab known affected range Unknown/ not done No Not present
*Pathogenic: classified as pathogenic or likely pathogenic by ACMG Guidelines (2015)
** Clinical symptoms consistent with Pompe Disease: progressive muscle weakness, need for respiratory assistance, swaying gait or waddle, Lordosis, kyphosis, or scoliosis

Other Disorder

Arginase deficiency
Classification Plasma amino acids Mutation analysis Enzyme Studies
Definite 2 known disease causing variants in the same gene (Allele 1 ? variant known to be disease causing and Allele 2 ? variant known to be disease causing)
Definite Enzyme analysis consistent with Arginase deficiency
Probable Elevated Arginine 1 known disease causing mutation
Possible Elevated Arginine
Biotinidase deficiency (BIOT)
Classification Enzyme Levels Mutation analysis
Definite- profound Untested or unknown 2 known profound disease causing mutations in the same gene
Definite- partial Untested or unknown 2 known hypomorphic mutations in the same gene
Probable Profound <10% normal activity Untested or unknown
Probable Partial 10-30% normal activity Untested or unknown
Classic galactosemia (GALT)
Classification GALT Levels Gal-1-P level Urine Galactitol Mutation analysis
Definite Definite 2 known disease causing variants in the same gene (Allele 1 – variant known to be disease causing and Allele 2 – variant known to be disease causing)
Definite Elevated 2 variants of uncertain significance in the same gene - predicted to be pathogenic [Allele 1 - variant of unknown significance (predicted to be pathogenic) and Allele 2 – variant of unknown significance (predicted to be pathogenic)]
Definite Elevated 2 variants of uncertain significance in the same gene - predicted to be pathogenic [Allele 1 - variant of unknown significance (predicted to be pathogenic) and Allele 2 – variant of unknown significance (predicted to be pathogenic)]
Definite Elevated 2 variants of uncertain significance in the same gene [Allele 1 - variant of unknown significance and Allele 2 – variant of unknown significance]
Definite Elevated 2 variants of uncertain significance in the same gene [Allele 1 - variant of unknown significance and Allele 2 – variant of unknown significance]
Definite Elevated 1 known disease causing mutation and 1 mutation of uncertain significance gene (Allele 1 – variant known to be disease causing and Allele 2 – and Allele 2 – variant of unknown significance)
Definite Elevated 2 known disease causing mutation and 1 mutation of uncertain significance gene (Allele 1 – variant known to be disease causing and Allele 2 – and Allele 2 – variant of unknown significance)
Probable Elevated
Probable Elevated
Probable 1 known disease causing mutation (Allele 1 – variant known to be disease causing)
Probable 2 variants of uncertain significance in the same gene - predicted to be pathogenic [Allele 1 - variant of unknown significance (predicted to be pathogenic) and Allele 2 – variant of unknown significance (predicted to be pathogenic)]
Probable <10% 2 variants of uncertain significance in the same gene [Allele 1 - variant of unknown significance and Allele 2 – variant of unknown significance]
Possible <10%
SMA
Classification SMN1 Copy Number (Newborn Screening Molecular*) SMN2 Copy Number (Newborn Screening Molecular*) SMN1 Copy Number (Post-Newborn Screening Molecular) SMN2 Copy Number (Post-Newborn Screening Molecular) Parental Molecular Testing Family History/Parental Genetic Testing Clinical Symptoms at the time of Presentation**
Definite Zero copies of SMN1 (presumed homozygous deletion/conversion) ^ Any Zero copies of SMN1 (presumed homozygous deletion) ^ Any
Definite 2 pathogenic variants Any 2 pathogenic variants Any Phasing is complete and confirms that variants are in trans or both parents are known to be carriers of the pathogenic variants identified
Definite 2 pathogenic variants observed on two independently collected NBS specimens Any Uknown/ Not Done Any Phasing is complete and confirms that variants are in trans or both parents are known to be carriers of the pathogenic variants identified
Definite Unknown/ Not Done/Screen Negative Any 2 pathogenic variants observed on 2 independently collected specimens Any Phasing is complete and confirms that variants are in trans or both parents are known to be carriers of the pathogenic variants identified
Definite Zero copies of SMN1 (presumed homozygous deletion/conversion) ^ Unknown/ Not Done Uknown/ Not Done Both parents are known carriers of SMN1 deletion
Definite Unknown/ Not Done /Screen Negative Any Zero copies of SMN1 (presumed homozygous deletion/conversion) Any Both parents are known carriers of SMN1 deletion
Definite Unknown/ Not Done /Screen Negative Any Zero copies of SMN1 (presumed homozygous deletion/conversion) ^ Observed on two independently collected specimens Any
Definite Zero copies of SMN1 (presumed homozygous deletion/conversion) ^ observed on two independently collected NBS specimens Any Unknown/ Not Done
Definite Unknown/ Not Done /Screen Negative Any Zero copies of SMN1 (presumed homozygous deletion/conversion) ^ Any Clinical Symptoms present (see list)
Probable Zero copies of SMN1 (presumed homozygous deletion/conversion) ^ Any Unknown/ Not Done Any Clinical symptoms present (see list)
Probable 2 pathogenic variants Any 2 pathogenic variants Phasing not done or not known Clinical symptoms present (see list)
Probable 2 pathogenic variants observed on two independently collected NBS specimens Any Unknown/ Not Done Phasing not done or not known Clinical symptoms present (see list)
Probable Unknown/ Not Done/Screen Negative Any 2 pathogenic variants observed on 2 independent collected specimens Phasing not done or not known Clinical symptoms present (see list)
Possible Zero copies of SMN1 (presumed homozygous deletion/conversion) ^ Any Unknown/ Not Done Unknown/ Not Done Unknown/ Not Done
Possible Unknown/ Not Done /Screen Negative Any Zero copies of SMN1 (presumed homozygous deletion/conversion) ^ Any Unknown/ Not Done Uknown
Possible 2 pathogenic variants observed on two independently collected NBS specimens Any Unknown/ Not Done
Possible Unknown/ Not Done/Screen Negative Any 2 pathogenic variants observed on 2 independently collected specimens
Possible 2 pathogenic variants Any 2 pathogenic variants
Possible 2 pathogenic variants Any Unknown/ Not Done Phasing not done or not known Clinical symptoms present (see list)
Possible Unknown/ Not Done Any 2 pathogenic variants Phasing not done or not known Clinical symptoms present (see list)
Possible 1 pathogenic variant and 1 variant of unknown significance Any 1 pathogenic variant and 1 variant of unknown significance
Possible 1 pathogenic variant and 1 variant of unknown significance Any 1 pathogenic variant and 1 variant of unknown significance Clinical symptoms present (see list)
Possible 1 pathogenic variant and 1 variant of unknown significance Any 1 pathogenic variant and 1 variant of unknown significance Phasing is complete and confirms that variants are in trans or both parents are known to be carriers of the variants identified With or without clinical symptoms
Possible 2 variants of unknown significance Any 2 variants of unknown significance
Possible 2 variants of unknown significance Any 2 variants of unknown significance Phasing is complete and confirms that variants are in trans or both parents are known to be carriers of the variants identified With or without clinical symptoms
Possible Unknown/ Not Done /Screen Negative Any 2 variants of unknown significance Clinical symptoms present (see list)
KEY: ^ Presumed homozygous deletion/conversion: true deletion of exon 7 (or larger) or for which there has been a gene conversion of exon 7 (or more) * Programs need to ensure specimens are valid, taking into account NICU status and inhibitor use ** Clinical symptoms include electromyography evidence of motor neuron disease, absent reflexes, fasciculations, feeding difficulty, hypotonia, respiratory difficulty, weakness
Typical cystic fibrosis (CF)
Classification Clinical Sweat Chloride Non Newborn Screen Molecular Newborn Screen Molecular NBS Result
Definite >=60 mmol/L (regardless of age) Not available or not done 2 CF disease-causing mutations
Definite >=60 mmol/L (regardless of age) 2 CF disease-causing mutations Not available or not done
Definite No valid sweat chloride result available 2 CF disease-causing mutations 2 CF disease-causing mutations
Definite No known medical condition associated with false positive sweat chloride TWO results >=60 mmol/L (regardless of age, two independent results from separate days) Not available or not done Not available or not done
Definite <60 mmol/L 2 CF disease-causing mutations and 1 or both have been shown to have lower chlorides (see CFTR2) 2 CF disease-causing mutations and 1 or both have been previously shown to have lower chlorides, (see CFTR2)
Probable No valid sweat chloride result available Not available or not done 2 CF-causing mutations
Probable No valid sweat chloride result available 2 CF-causing mutations Not available or not done
Probable >=60 mmol/L (single test, regardless of age) Not available or not done 2 Mutations of varying clinical consequence
Probable >=60 mmol/L (single test, regardless of age) Not available or not done 2 Mutations of uknown clinical significance
Probable >=60 mmol/L (single test, regardless of age) 2 Mutations of varying clinical consequence Not available or not done
Probable >=60 mmol/L (single test, regardless of age) 2 Mutations of unknown clinical significance Not available or not done
Probable <60 mmol/L 2 CF disease-causing mutations and 1 or both have been shown to have lower chlorides Not available or not done
Probable <60 mmol/L Not available or not done 2 CF-disease-causing mutations and 1 or both have been previously shown to have lower chlorides, (see CFTR2)
Variant galactosemia
Classification GALT Levels Gal-1-P level Urine Galactitol Mutation analysis Protein phenotyping
Definite 1 known classic galactosemia disease causing mutation and 1 known variant galactosemia mutation
Definite- 10%-30% Elevated 1 known disease causing mutation and 1 mutation of uncertain significance- predicted to be pathogenic
Definite 10%-30% Elevated 1 known disease causing mutation and 1 mutation of uncertain significance- predicted to be pathogenic
Definite 10%-30% Elevated phenotype consistent with variant
Definite 10%-30% Elevated phenotype consistent with variant
Definite 10%-30% Elevated 1 known disease causing mutation and 1 mutation of uncertain significance
Definite 10%-30% Elevated 1 known disease causing mutation and 1 mutation of uncertain significance
Probable 10%-30% phenotype consistent with variant
Possible 10%-30%

SCID

Leaky SCID
Classification: CD3 T cells/ mL Proliferation Maternal engraftment Y/N Molecular testing Clinical Presentation
Definite 300-1500, few naive T cells, oligoclonal T cells or poor T cell diversity 10-50% normal PHA No Unknown or not done
Definite 300-1500, few naive T cells 10-50% normal PHA No Consistent with SCID^
Possible 300-1500, few naive T cells Unknown or any No Unknown or not done
Definite 300-1500, few naive T cells Unknown or any No Consistent with SCID^
Possible Any number 10-30% normal PHA or Absent to Candida/TT No Unknown or not done
Definite Any number 10-30% normal PHA or Absent to Candida/TT No Consistent with SCID^
^ Consistent with Leaky SCID: Two pathogenic variants in a known SCID gene known to be associated with leaky SCID (previously reported or in a gene previously associated with a combined immune deficiency ) or one pathogenic variant in SCID gene on X chromosome in a male; ruled out 22q11 deletion; ruled out heterozygous TBX1 variants; ruled out homozygous or compound heterozygous FOXN1 mutations
Non-SCID conditions associated with SCID NBS
Classification Findings
Syndromes with low T-cell numbers Recognized genetic syndrome that includes variable immune defects, with some cases having significantly low T-cell numbers (DiGeorge syndrome, FOXN1, CHARGE syndrome, Trisomy 21, Jacobsen syndrome, RAC2 defect, DOCK8 deficiency, Ataxia Telangiectasia, VACTERL association, Barth syndrome, TAR syndrome, Ectrodactyly Ectodermal Dysplasia syndrome, Cartilage Hair Hypoplasia, others)
Secondary T-cell lymphopenia Congenital malformation or disease process without an intrinsic defect in production of circulating T-cells (e.g. congenital heart disease with vascular leak, hydrops, gastroschisis, chylothorax, intestinal lymphangiectasia, others)
Preterm birth alone Preterm birth and low birth weight, with low T cell numbers early in life that normalize over time
Idiopathic T-cell lymphopenia (formerly called Variant SCID) Persistently low T cell numbers for over 3 months without recognized cause
In all of these other conditions there is 1) no maternal engraftment, 2) the T cells are largely naive, 3) PHA proliferation is usually normal.
Omenn Syndrome
Classification: CD3 T cells/ mL Proliferation to PHA Maternal engraftment Y/N Molecular testing Clinical Presentation
Definite >80%CD45RO+ 10-50%normal No Consistent with OS/SCID^^ Consistent with OS**
Definite >80%CD45RO+ 10-50%normal No Untested or unknown Consistent with OS**
Definite >80%CD45RO+ 10-50%normal No No variant reported, ruled out 22q11 and FOXN1 Consistent with OS**
Probable >80%CD45RO+ Untested or unknown No Consistent with OS/SCID^^ Consistent with OS**
Probable >80%CD45RO+ 10-50%normal Unknown Untested or unknown Consistent with OS**
Uncertain >80%CD45RO+ Untested or unknown Untested or Unknown Untested or unknown Consistent with OS**
** Clinical presentation may include Erythroderma with biopsy showing T cell infiltrate; hepatomegaly, splenomegaly or both; adenopathy, eosinophilia, elevated levels of serum IgE antibody
^^ Consistent with OS/SCID: Two pathogenic variants in a SCID gene known to be associated with leaky SCID (previously reported or in a gene previously associated with a combined immune deficiency) or one pathogenic variant in SCID gene on X chromosome in a male; ruled out 22q11 deletion; ruled out heterozygous TBX1 variants; ruled out homozygous or compound heterozygous FOXN1 mutations
Typical SCID
Classification: CD3 T cells/ mL Proliferation to PHA Maternal engraftment Y/N Molecular testing Clinical Presentation
Definite <300 autologous T Cells, undetectable or very few naive T cells <10% of normal Yes Consistent with SCID^
Definite <300 autologous T Cells, undetectable or very few naive T cells <10% of normal Yes Unknown or not done
Definite <300 autologous T Cells, undetectable or very few naive T cells Unknown or any Yes Consistent with SCID^
Definite Any number <10% of normal Yes Consistent with SCID^
Definite <300 autologous T Cells, undetectable or very few naive T cells <10% of normal No Consistent with SCID^
Probable <300 autologous T Cells, undetectable or very few naive T cells <10% of normal No Unknown or not done
Probable Any number <10% of normal No Consistent with SCID^
Probable Any number <10% of normal Yes Unknown or not done
Probable Any number Unknown or any Yes None or inconclusive
Probable Any number Unknown or any Yes Consistent with SCID^
Possible <300 autologous T Cells, undetectable or very few naive T cells <10% of normal Untested or unknown Untested or unknown Untested or unknown
Possible <300 autologous T Cells, undetectable or very few naive T cells Unknown or any No Unknown or not done
Possible <300 autologous T Cells, undetectable or very few naive T cells Unknown or any No Consistent with SCID^
Probable <300 autologous T Cells, undetectable or very few naive T cells Unknown or any Yes Unknown or not done
Possible Any number Unknown or any No Consistent with SCID^
Possible Any number <10% of normal No None or inconclusive
Uncertain Any number Unknown or any No Unknown or not done
^ Consistent with SCID: Two pathogenic variants in a known SCID gene; pathogenic variant in SCID gene on X chromosome in a male; ruled out 22q11 deletion; ruled out heterozygous TBX1 variants; ruled out homozygous or compound heterozygous FOXN1 mutations

X-ALD

X-ALD (females)
Category Diagnosis Plasma VLCFA Plasmalogen Mutation analysis Fibroblast studies Additional comments
Definite Carrier Female Normal Normal Pathogenic variant ABCD1 gene Untested or unknown
Definite Carrier Female Elevated^ Normal Pathogenic variant ABCD1 gene Untested or unknown
Possible Carrier Female Elevated^ Not done/unknown Not done/ uknown
Possible Carrier Female Not done/ unknown Not done/unknown Not done/ uknown Not done/ unknown Family history or family VLCFA studies suggestive of X-linked ALD
Definite Carrier Female Elevated^ Normal Variant of uncertain significance ABCD1 gene
Possible Carrier Female Normal Normal Variant of uncertain significance ABCD1 gene
^In the pathogenic range
X-ALD (males)
Category Plasma VLCFA Clinical Symptoms Plasmalogen Mutation analysis Family History
Definite Elevated^ Not present Untested or unknown Pathogenic Variant in ABCD1 gene
Definite Elevated^ Not present Normal Deletion/ duplication identified in ABCD1 gene
Definite Elevated^ Not present Normal No mutation on sequencing, deletion/ duplication not done Family history or family VLCFA studies suggestive of X-linked ALD
Definite Elevated^ Not present Normal Variant of uncertain significant in ABCD1 gene Family history or family VLCFA studies suggestive of X-linked ALD
Possible Elevated^ Not present Normal Variant of uncertain significant in ABCD1 gene
Possible Elevated^ Not present Normal No mutation on sequencing, deletion/ duplication not done; Rule out other disorders of peroxisomal beta oxidation
Possible Elevated^ Not present Normal Untested or unknown
Probable Not available Not available Not available Pathogenic Variant in ABCD1 gene
Possible Not available Not present Not available Variant of uncertain significant in ABCD1 gene Family history or family VLCFA studies suggestive of X-linked ALD#
^In the pathogenic range
# Family history may include multiple relatives consistent with X-linked transmission as determined by clinical specialist: Maternal grandfather, maternal aunts, mother
ABCD5 (in males and females)
Category Plasma VLCFA Plasmalogen Mutation analysis Fibroblast studies Clinical symptoms
Definite Elevated^ Normal Two disease causing mutations Untested or unknown Not present at birth
Definite Elevated^ Normal Untested or unknown Consistent with ABCD5 Not present at birth
^In the pathogenic range
Acyl-CoA Oxidase Deficiency (in males and females)
Category Plasma VLCFA Plasmalogen Mutation analysis Fibroblast studies Clinical symptoms
Definite Elevated^ Normal Two pathogenic mutations in the ACOX1 gene Untested or unknown Not present at birth
Possible Elevated^ Normal Untested or unknown Consistent with Acyl-CoA Oxidase Deficiency Not present at birth
^In the pathogenic range
CADDS
Category Plasma VLCFA Clinical symptoms Plasmalogen Mutation analysis Family history
Definite Elevated^ Present** Normal Deletion identified in ABCD1 and DXS1357E
^In the pathogenic range
** Symptoms may include: neonatal hypotonia, neonatal sizures, liver disease, neonatal cholestasis, sensorineural deafness
D-bifunctional protein deficiency (in males and females)
Category Plasma VLCFA Plasmalogen Mutation analysis Fibroblast studies Clinical symptoms
Definite Elevated^ Normal Two pathogenic mutations in the HSD17B4 gene Untested or unknown Present*
Possible Elevated^ Normal Untested or unknown Consistent with D-Bifunctional Protein Present*
^In the pathogenic range
*Clinical symptoms may include: Hypotonia in newborn period, failure to thrive, craniofacial abnormalities, abnormal liver function tests.
Non-peroxisomal disorder (in males and females)
Category Plasma VLCFA Plasmalogen Mutation analysis Fibroblast studies Clinical symptoms
Definite Normal Normal Mutation in one of the 7 known genes for Aicardi-Gouti�res Syndrome Untested or unknown Present**
**Clinical symptoms may include: Hypotonia in newborn period, failure to thrive, on CT scan, intracranial calcifications.
Peroxisomal disorder (in males and females)
Category Plasma VLCFA Clinical symptoms Plasmalogen Mutation analysis Family history
Probable Elevated^ Not present Normal No mutation on sequencing, deletion/duplication not found
^In the pathogenic range
Zellweger spectrum disorder (in males and females)
Category Plasma VLCFA Plasmalogen Clinical symptoms Mutation analysis Fibroblast studies
Definite Elevated^ Low Present* Two pathogenic variants in the same PEX gene Untested or unknown
Definite Elevated^ Low Present* Untested or unknown Consistent with ZSD
Definite Elevated^ Low Not present Two pathogenic variants in the same PEX gene Untested or unknown
Definite Elevated^ Low Not present Untested or unknown Consistent with ZSD
Definite Elevated^ Low Present* Untested or unknown Untested or unknown
Possible Elevated^ Low Not present Untested or unknown Untested or unknown
Possible Elevated^ Normal Not present Untested or unknown Untested or unknown
^In the pathogenic range
*Clinical symptoms may include: Hypotonia in newborn period, failure to thrive, craniofacial abnormalities, abnormal liver function tests.