Case Definitions

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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)

ClassificationUrine or serum organic acidsPlasma AcylcarnitinesMutation analysisEnzyme analysis
DefiniteUntested or unknownUntested or unknown2 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
DefiniteUntested or unknownUntested or unknownUntested or uknownenzyme activity consistent with disease
DefiniteElevated - 3-OH Glutaric and - GlutaricElevated C5 - DCUntested or uknownUntested or unknown
ProbableElevated - 3-OH GlutaricElevated C5 - DCUntested or uknownUntested or unknown
ProbableElevated glutaricElevated C5 - DC2 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
ProbableElevated glutaricElevated C5 - DCUntested or uknownUntested or unknown

Holocarboxylase synthase deficiency (MCD)

ClassificationUrine organic acidsPlasma AcylcarnitinesInfant chemistries/studiesMutation analysisEnzyme analysis
DefinieUntested or unknownUntested or unknownUntested or unknown2 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
DefiniteUntested or unknownUntested or unknownUntested or unknownUntested or unknownenzyme activity on fibroblasts or WBCs consistent with disease
DefiniteElevated
-3OH Isovaleric and
-3OH Propionic and
-3methylcrotonyl glycine
elevated C3; and C5-OHNormal biotinidase studiesUntested or unknownUntested or unknown
PossibleElevated
-3OH Isovaleric and
-3methylcrotonyl glycine
elevated C3; and C5-OHNormal biotinidase studiesUntested or unknownUntested or unknown
PossibleElevated
-propionyl glycine and
-3methylcrotonyl glycine
elevated C3; and C5-OHNormal biotinidase studiesUntested or unknownUntested or unknown
PossibleNormalelevated C3; and C5-OHNormal biotinidase studies1 known disease causing variant (Allele 1 - variant known to be disease causing)Untested or unknown
PossibleNormalelevated C3; and C5-OHNormal biotinidase studies2 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)

ClassificationUrine organic acidsPlasma AcylcarnitinesMutation analysisEnzyme analysis
DefiniteUntested or unknownUntested or unknown2 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
DefiniteUntested or unknownUntested or unknownUntested or unknownEnzyme activity on fibroblasts or WBCs consistent with disease
DefiniteElevated - isovalerylglycine and - 3-OH IsovalericElevated C5Untested or unknownUntested or unknown
DefiniteElevated IsovalerylglycineElevated C52 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
PossibleElevated IsovalerylglycineElevated C5Untested or unknownUntested or unknown
PossibleElevated IsovalerylglycineElevated C51 known disease causing variant (Allele 1 - variant known to be disease causing)Untested or unknown
PossibleElevated IsovalerylglycineElevated C52 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)

ClassificationUrine organic acidsPlasma AcylcarnitinesMaternal StudiesMutation analysisEnzyme analysis
DefiniteUntested or unknownUntested or unknownUntested or unknown2 known disease causing mutations in the same geneUntested or unknown
DefiniteUntested or unknownUntested or unknownUntested or unknown2 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
DefiniteElevated
3-OH Isovaleric with or without elevated
3-methylcrotonyl glycine
elevated
C5 -OH
Maternal deficiency tested and ruled out2 mutations of uncertain significance in the same gene - predicted to be pathogenicUntested or unknown
ProbableElevated
3-OH Isovaleric with or without elevated
3-methylcrotonyl glycine
elevated
C5 -OH
Maternal deficiency tested and ruled out2 mutations of uncertain significance in the same gene (one mutation may be of uncertain significance predicted to be pathogenic)Untested or unknown
ProbableElevated
- 3-OH Isovaleric and
- 3-methylcrotonyl glycine
elevated
C5 -OH
Maternal deficiency tested and ruled outOnly one mutation identified OR
No mutations found OR
Untested OR
Unknown
Untested or unknown
PossibleElevated
- 3-OH Isovaleric and
- 3-methylcrotonyl glycine
Untested or unknownMaternal deficiency tested and ruled outOnly one mutation identified OR
No mutations found OR
Untested OR
Unknown
Untested or unknown
PossibleUntested or unknownelevated
C5 -OH
Maternal deficiency tested and ruled outOnly one mutation identified OR
No mutations found OR
Untested OR
Unknown
Untested or unknown

Methylmalonic acidemia (MMA)

ClassificationUrine or serum organic acidsPlasma AcylcarnitinesMaternal StudiesInfant chemistries/ studiesMutation analysisEnzyme analysis
DefiniteUntested or unknownUntested or unknownUntested or unknownUntested or unknown2 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
DefiniteUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknowncomplementation studies consistent with corresponding disease
DefiniteElevated MMA for ageElevarted C3Absence of B12 deficiencyAbsence of B12 deficiency and -Normal homocysteine2 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
ProbableElevated MMA for ageElevarted C4Absence of B12 deficiencyAbsence of B12 deficiency and -Normal homocysteine2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 - variant of unknown significance)Untested or unknown
ProbableElevated MMA for ageElevarted C5Absence of B12 deficiencyAbsence of B12 deficiency and -Normal homocysteineUntested or unknownUntested or unknown
ProbableElevated MMA for ageElevated C6Absence of B12 deficiencyAbsence of B12 deficiency and -Normal homocysteine1 known disease causing variant (Allele 1 - variant known to be disease causing)Untested or unknown
ProbableElevated MMA for ageElevarted C7Absence of B12 deficiencyAbsence of B12 deficiency and -Normal homocysteineNone foundUntested or unknown
ProbableElevated MMA for ageElevarted C8Untested or unknownAbsence of B12 deficiency and -Normal homocysteineN/AUntested or unknown

Methylmalonic acidemia with homocystinuria (Cbl C,D)

ClassificationUrine serum organic acidsPlasma AcylcarnitinesMaternal StudiesInfant chemistries/ studiesMutation analysisEnzyme analysis
DefiniteUntested or unknownUntested or unknownUntested or unknownUntested or unknown2 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
DefiniteUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownComplementation studies consistent with corresponding disease
DefiniteElevated MMA for ageElevated C3Absence of B12 deficiencyAbsence of B12 deficiency and -Elevated homocysteine2 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
ProbableElevated MMA for ageElevated C3Absence of B12 deficiencyAbsence of B12 deficiency and -Elevated homocysteine2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 - variant of unknown significance)Untested or unknown
ProbableElevated MMA for ageElevated C3Absence of B12 deficiencyAbsence of B12 deficiency and -Elevated homocysteineUntested or unknownUntested or unknown
ProbableElevated MMA for ageElevated C3Absence of B12 deficiencyAbsence of B12 deficiency and -Elevated homocysteine1 known disease causing variant (Allele 1 - variant known to be disease causing)Untested or unknown
PossibleElevated MMA for ageElevated C3Absence of B12 deficiencyAbsence of B12 deficiency and -Elevated homocysteineNone foundUntested or unknown
PossibleElevated MMA for ageElevated C3Untested or unknownAbsence of B12 deficiency and -Elevated homocysteineN/AUntested or unknown

Propionic acidemia (PROP)

ClassificationUrine organic acidsPlasma AcylcarnitinesMutation analysis
DefiniteUntested or unknownUntested or unknown2 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)
DefinitePresence of
--methylcitrate and
- +/-3OH propionic acid, propionyl glycine,
-tiglyglycine and Absence of:
-MMA and
- methylcrotonyl glycine
Elevated C3Untested or unknown
ProbablePresence of
-3-OH propionic and Absence of:
-MMA and -methylcrotonyl glycine
Elevated C32 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)]
PossiblePresence of
-3-OH propionic and Absence of:
-MMA and -methylcrotonyl glycine
Elevated C3Untested or unknown
PossiblePresence of
-3-OH propionic and Absence of:
-MMA and -methylcrotonyl glycine
Elevated C32 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 � variant of unknown significance)
PossiblePresence of
-3-OH propionic and Absence of:
-MMA and -methylcrotonyl glycine
Elevated C31 known disease causing variant (Allele 1 - variant known to be disease causing)
PossibleAbsence of -MMA and -methylcrotonyl glycineElevated C32 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)

ClassificationUrine Carnitine excretionPlasma CarnitineSpecial CircumstanceMutation analysisEnzyme analysis
DefiniteUntested or unknownUntested or unknownUntested or unknown2 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
DefiniteUntested or unknownUntested or unknownUntested or unknownUntested or unknownenzyme activity consistent with disease
DefiniteElevated fractional excretion of free carnitineLow free carnitineSecondary carnitine loss ruled outUntested or unknownUntested or unknown
ProbableUntested or unknownLow free carnitineSecondary carnitine loss ruled out2 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
PossibleUntested or unknownLow free carnitineSecondary carnitine loss ruled out1 known disease causing variant (Allele 1 - variant known to be disease causing)Untested or unknown
PossibleUntested or unknownLow free carnitineSecondary carnitine loss ruled out2 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 – variant of unknown significance)Untested or unknown
PossibleUntested or unknownLow free carnitineSecondary carnitine loss ruled outNone foundUntested or unknown
PossibleUntested or unknownLow free carnitineSecondary carnitine loss ruled outUntested or unknownUntested or unknown

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

ClassificationUrine Organics or aclyglycinesPlasma AcylcarnitinesMutation analysisFunctional Studies
DefiniteUntested or unknownUntested or unknown2 known disease causing mutations in the same geneUntested or unknown
DefiniteUntested or unknownUntested or unknownUntested or unknownFunctional fibroblast or Enzyme analysis consistent with MCAD
DefiniteElevated hexanoylglycineElevated:
-C8 and
-C8>C10 and
-C8 >C6 and
-C6 and
-C10
Untested or unknownUntested or unknown
DefiniteUntested or unknownElevated:
-C8 and
-C8>C10 and
-C8 >C6 and
-C6 and
-C10
2 mutations of uncertain significance in the same gene - predicted to be pathogenicUntested or unknown
ProbableUntested or unknownElevated C8 on repeat testing1 known disease causing mutation and 1 mutation of uncertain significance in the same geneUntested or unknown
ProbableElevated hexanoylglycineElevated C8 on repeat testing1 known disease causing mutationUntested or unknown
ProbableUntested or unknownElevated C8 on repeat testing2 mutations of uncertain significance in the same geneUntested or unknown
PossibleElevated hexanoylglycineElevated C8 on repeat testingNo mutation foundUntested or unknown
PossibleElevated hexanoylglycineUntested or unknown2 mutations of uncertain significance in the same geneUntested or unknown
PossibleElevated HexanoylglycineUntested or unknownNo mutation foundUntested or unknown
PossibleUntested or unknownElevated C8 on repeat testingNo mutation foundUntested or unknown
Possible or CarrierUntested or unknownElevated C81 known disease causing mutationUntested or unknown
Possible or CarrierElevated HexanoylglycineNormal1 known disease causing mutationUntested or unknown

Trifunctional protein deficiency (TFP) - inclusive of LCHAD

ClassificationUrine OrganicsPlasma AcylcarnitinesMutation analysisFunctional Studies
DefiniteUntested or unknownUntested or unknown2 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
DefiniteUntested or unknownUntested or unknownUntested or unknownFunctional fibroblast or Enzyme analysis consistent with LCHAD or TFP
DefiniteUntested or unknownElevated:
-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
ProbableElevated
-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 unknownUntested or unknown
ProbableUntested or unknownElevated:
-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
ProbableUntested or unknownElevated:
-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
PossibleUntested or unknownElevated:
-C16-OH (on more than one specimen) and -C16:1-OH and
-C18-OH and
-C18:1-OH
No variants foundUntested or unknown
PossibleUntested or unknownElevated:
-C16-OH (on more than one specimen) and -C16:1-OH and
-C18-OH and
-C18:1-OH
Untested or unknownUntested or unknown
PossibleElevated
-C12-OH dicarboxylic and -C10-OH dicarboxylic
Untested or unknownUntested or unknownUntested or unknown
PossibleElevated
-C12-OH dicarboxylic and -C10-OH dicarboxylic
Untested or unknown1 known disease causing variant (Allele 1 - variant known to be disease causing)Untested or unknown
PossibleUntested or unknownElevated:
-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)

ClassificationPlasma AcylcarnitinesMutation analysisFunctional Studies
DefiniteUntested or unknown2 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
DefiniteUntested or unknownUntested or unknownFunctional fibroblast or Enzyme analysis consistent with VLCAD
DefiniteElevated -C14:1 (on more than one sample) and -C14:2 and -C14Untested or unknownUntested or unknown
DefiniteElevated -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
ProbableElevated -C14:1 (on more than one sample) and -C14:22 variants of uncertain significance in the same gene (Allele 1 - variant of unknown significance and Allele 2 – variant of unknown significance)Untested or unknown
ProbableElevated -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
ProbableElevated -C14:1 (on more than one sample) and -C14:21 known disease causing variant (Allele 1 - variant known to be disease causing)Untested or unknown
PossibleElevated -C14:1 (on more than one sample) and -C14:3Untested or unknownUntested or unknown
PossibleElevated -C14:1 (on more than one sample) and -C14:4No variants foundUntested or unknown
PossibleElevated -C14:1 (on more than one sample)Untested or unknownUntested or unknown
PossibleElevated -C14:1 (on more than one sample)No variants foundUntested or unknown
PossibleElevated -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)

ClassificationPlasma or urine amino acidsMutation analysisEnzyme Studies
DefiniteUntested or unknown2 known disease causing mutations in the same geneUntested or unknown
DefiniteUntested or unknownUntested or unknownEnzyme analysis consistent with ASA
DefiniteElevated
-ASA and
-Citrulline
Untested or unknownUntested or unknown
DefiniteElevated ASA2 mutations of uncertain significance in the same gene - predicted to be pathogenicUntested or unknown
PossibleElevated Citrulline1 known disease causing mutationUntested or unknown
PossibleElevated Citrulline2 mutations of uncertain significance in the same geneUntested or unknown

Citrullinemia, type I (CIT) - exclusive of Citrin deficiency

ClassificationPlasma amino acidsBlood Ammonia LevelsMutation analysisEnzyme Studies
DefiniteUntested or unknownUntested or unknown2 known disease causing mutations in the same geneUntested or unknown
DefiniteUntested or unknownUntested or unknownUntested or unknownEnzyme analysis consistent with Citrullinemia type I
DefiniteElevated Citrulline and
Absent ASA
Untested or unknown2 mutations of uncertain significance in the same gene - predicted to be pathogenicUntested or unknown
DefiniteElevated Citrulline and
Absent ASA
ElevatedUntested or unknownUntested or unknown
ProbableElevated Citrulline and
Absent ASA
Untested or unknown1 known disease causing mutationUntested or unknown
ProbableElevated Citrulline and
Absent ASA
Untested or unknown2 mutations of uncertain significance in the same geneUntested or unknown
PossibleElevated Citrulline and
Absent ASA
Untested or unknownUntested or unknownUntested or unknown

Classic phenylketonuria (PKU) and benign hyperphenylalanemia (H-PHE)

ClassificationPlasma amino acidsSpecial StudiesMutation analysisEnzyme Studies
DefiniteUntested or unknownUntested or unknown2 known disease causing mutations in the same geneUntested or unknown
DefiniteUntested or unknownUntested or unknownUntested or unknownEnzyme analysis consistent with PAH deficiency
DefiniteElevated
Phe (>120umol/L on unrestricted diet) and
Phe/Tyr ratio
Normal biopterin studiesUntested or unknownUntested or unknown
PossibleElevated
Phe (>120umol/L on unrestricted diet) and
Phe/Tyr ratio
Untested or unknownUntested or unknownUntested or unknown

Cystathionine beta-synthase (CBS) deficiency

ClassificationPlasma amino acidsMutation analysisEnzyme Studies
DefiniteUntested or unknown2 known disease causing mutations in the same geneUntested or unknown
DefiniteUntested or unknownUntested or unknownEnzyme analysis consistent with CBS deficiency
DefiniteElevated
-Methionine and
-Homocysteine
2 mutations of uncertain significance in the same gene - predicted to be pathogenicUntested or unknown
ProbableElevated
-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
ProbableElevated
-Methionine and
-Homocysteine
1 known disease causing mutations and 1 mutation of uncertain significance in the same geneUntested or unknown
PossibleElevated
-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)

ClassificationPlasma amino acidsUrine Organic acidsMutation analysisEnzyme Studies
DefiniteUntested or unknownUntested or unknown2 known disease causing mutations in the same geneUntested or unknown
DefiniteUntested or unknownUntested or unknownAny mutation results Untested or unknownEnzyme analysis consistent with MSUD
DefiniteElevated Alloisoleucine and
Leu, and
Val, and
Ileu
Untested or unknownAny mutation results Untested or unknownUntested or unknown
DefiniteElevated AlloisoleucineUntested or unknown2 mutations of uncertain significance in the same gene - predicted to be pathogenicUntested or unknown
ProbableElevated AlloisoleucineUntested or unknown2 mutations of uncertain significance
Only one mutation identified
No mutations found
Untested or unknown
Untested or unknown
ProbableElevated 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
PossibleElevated Leu and
Ile and
Val and
Leu>Val
Untested or unknown3 mutations of uncertain significance
Only one mutation identified
No mutations found
Untested or unknown
Untested or unknown

Tyrosinemia, type I (TYR I)

ClassificationUrine or Serum studiesMutation analysisEnzyme Studies
DefiniteUntested or unknown2 known disease causing mutations in the same geneUntested or unknown
DefiniteUntested or unknownUntested or unknownEnzyme analysis consistent with FAH enzyme deficiency
DefiniteElevated SuccinylacetoneUntested or unknownUntested or unknown
PossibleElevated tyrosine and
Normal Succinylacetone
2 mutations of uncertain significance in the same gene - predicted to be pathogenicUntested or unknown
PossibleElevated tyrosine and
Normal Succinylacetone
1 known disease causing mutationUntested or unknown
PossibleElevated tyrosine and
Normal Succinylacetone
2 mutations of uncertain significance in the same geneUntested or unknown

Endocrine Disorder

21-Hydroxylase deficiency – classical salt wasting

CategorySerum 17-OHP - baseline or ACTH stimulated*Urinary steroid profilingSerum Sodium mEq/LPlasma Renin ActivityCYP21A2 Mutation AnalysisIf available - Supportive Clinical or Laboratory Evidence
Definite> 10,000Untested or unknown< 135Untested or unknownUntested or unknownEvidence of salt wasting (present in shock or severe failure to thrive)
Definite> 10,000Untested or unknown<135Untested or unknownUntested or unknownambiguous genitalia in 46, XX
Definite> 10,000Untested or unknown<135Untested or unknownUntested or unknownother hormonal evidence of CAH
Definite> 10,000Untested or unknownUntested or unknownElevated for ageUntested or unknownEvidence of salt wasting (present in shock or severe failure to thrive)
Definite> 10,000Untested or unknownUntested or unknownElevated for ageUntested or unknownambiguous genitalia in 46, XX
Definite> 10,000Untested or unknownUntested or unknownElevated for ageUntested or unknownother hormonal evidence of CAH
DefiniteUntested or unknownUntested or unknownUntested or unknownUntested or unknowntwo classic genemutations or deletions in transEvidence of salt wasting (present in shock or severe failure to thrive)
DefiniteUntested or unknownUntested or unknownUntested or unknownUntested or unknowntwo classic gene mutations or deletions in transambiguous genitalia in 46, XX
DefiniteUntested or unknownUntested or unknownUntested or unknownUntested or unknowntwo classic gene mutations or deletions in transother hormonal evidence of CAH
DefiniteUntested or unknown(mass spectrometry) indicative of 21-Hydroxylase Deficiency CAHUntested or unknownUntested or unknownUntested or unknownEvidence of salt wasting (present in shock or severe failure to thrive)
DefiniteUntested or unknown(mass spectrometry) indicative of 21-Hydroxylase Deficiency CAHUntested or unknownUntested or unknownUntested or unknownambiguous genitalia in 46, XX
DefiniteUntested or unknown(mass spectrometry) indicative of 21-Hydroxylase Deficiency CAHUntested or unknownUntested or unknownUntested or unknownother hormonal evidence of CAH
Probable1,000 -10,000Untested or unknown< 135Untested or unknownUntested or unknownEvidence of salt wasting (present in shock or severe failure to thrive)
Probable1,000 -10,000Untested or unknown< 135Untested or unknownUntested or unknownambiguous genitalia in 46,XX
Probable1,000 -10,000Untested or unknown< 135Untested or unknownUntested or unknownother hormonal evidence of CAH
Probable1,000 -10,000Untested or unknownUntested or unknownElevated for ageUntested or unknownEvidence of salt wasting (present in shock or severe failure to thrive)
Possible1,000 -10,000Untested or unknownUntested or unknownElevated for ageUntested or unknownambiguous genitalia in 46,XX
Possible1,000 -10,000Untested or unknownUntested or unknownElevated for ageUntested or unknownother hormonal evidence of CAH

21-Hydroxylase deficiency – classical simple virilizing

CategorySerum 17-OHP- baseline or ACTH stimulated*Urinary Steroid profilingSerum Sodium mEq/LPlasma Renin ActivityCYP21A2 Mutation AnalysisIf available - Supportive Clinical or Laboratory Evidence
Definite>10,000Untested or unknown>135Untested or unknownUntested or unknownAmbiguous genitalia in 46,XX
Definite>10,000Untested or unknown>135Untested or unknownUntested or unknownno evidence of salt wasting
Definite>10,000Untested or unknown>135Untested or unknownUntested or unknownother hormonal evidence of CAH
Definite>10,000Untested or unknownUntested or unknownNormal for ageUntested or unknownAmbiguous genitalia in 46,XX
Definite>10,000Untested or unknownUntested or unknownNormal for ageUntested or unknownno evidence of salt wasting
Definite>10,000Untested or unknownUntested or unknownNormal for ageUntested or unknownother hormonal evidence of CAH
DefiniteUntested or unknown(mass spectrometry) indicative of 21-Hydroxylase Deficiency CAH>135Untested or unknownUntested or unknownAmbiguous genitalia in 46,XX
DefiniteUntested or unknown(mass spectrometry) indicative of 21-Hydroxylase Deficiency CAH>135Untested or unknownUntested or unknownno evidence of salt wasting
DefiniteUntested or unknown(mass spectrometry) indicative of 21-Hydroxylase Deficiency CAH>135Untested or unknownUntested or unknownother hormonal evidence of CAH
DefiniteUntested or unknown(mass spectrometry) indicative of 21-Hydroxylase Deficiency CAHUntested or unknownNormal for ageUntested or unknownAmbiguous genitalia in 46,XX
DefiniteUntested or unknown(mass spectrometry) indicative of 21-Hydroxylase Deficiency CAHUntested or unknownNormal for ageUntested or unknownno evidence of salt wasting
DefiniteUntested or unknown(mass spectrometry) indicative of 21-Hydroxylase Deficiency CAHUntested or unknownNormal for ageUntested or unknownother hormonal evidence of CAH
DefiniteUntested or unknownUntested or unknown>135Untested or unknowntwo classic gene mutations or deletions in transAmbiguous genitalia in 46,XX
DefiniteUntested or unknownUntested or unknown>135Untested or unknowntwo classic gene mutations or deletions in transno evidence of salt wasting
DefiniteUntested or unknownUntested or unknown>135Untested or unknowntwo classic gene mutations or deletions in transother hormonal evidence of CAH
DefiniteUntested or unknownUntested or unknownUntested or unknownNormal for agetwo classic gene mutations or deletions in transAmbiguous genitalia in 46,XX
DefiniteUntested or unknownUntested or unknownUntested or unknownNormal for agetwo classic gene mutations or deletions in transno evidence of salt wasting
DefiniteUntested or unknownUntested or unknownUntested or unknownNormal for agetwo classic gene mutations or deletions in transother hormonal evidence of CAH
Probable1,000 -10,000Untested or unknown>135Untested or unknownUntested or unknownAmbiguous genitalia in 46,XX or normal genitalia in 46,XY
Probable1,000 -10,000Untested or unknownUntested or unknownNormal for ageUntested or unknownAmbiguous genitalia in 46,XX or normal genitalia in 46,XY
Probable1,000 -10,000Untested or unknownUntested or unknownUntested or unknownUntested or unknownno evidence of salt wasting
* The results referenced should be obtained before the initiation of therapy.

Primary congenital hypothyroidism (CH)

CategorySerum TSH mU/L*Serum Total or Free T4*
DefiniteTSH > 10< age established reference range
ProbableTSH > 10normal T4/total T4
ProbableTSH > 10Untested or unknown
Possible**TSH 6-10< age established reference range
Possible **TSH 6-10Normal
Possible **TSH 6-10Untested or unknown
IncompleteUntested or unknownUntested or unknown
IncompleteUntested 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)

CategorySerum TSH mU/L*Serum Total or Free T4*Other studies
DefiniteTSH < 10< age established referencedocumentation of other pituitary hormone deficiencies or midline defects
Probable**TSH < 10< age established reference rangeno other pituitary hormone deficiencies or midline defects
PossibleUntested or unknown< age established reference rangeDocumentation of other pituitary hormone deficiencies or midline defects
PossibleTSH<10Untested or unknownDocumentation of other pituitary hormone deficiencies or midline defects
IncompleteUntested or unknownUntested or unknownDocumentation of other pituitary hormone deficiencies or midline defects
IncompleteTSH<10Untested or unknownno other pituitary hormone deficiencies or midline defects
IncompleteUntested or unknown< age established reference rangeno 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

CategorySerum TSH mU/LSerum Free T4Serum Total T4Other studies
DefinitenormalNormal for ageLow for ageLow TBG
DefinitenormalNormal for ageLow for ageincreased T3 or T4 resin uptake

Hemoglobin Disorder: Hemoglobin Disorder: Sickle Cell Disorder

CC disease

CategoryQualitative (IEF or HPLC)Quantiative (HPLC or electrophoresis)DNANBS resultCBCFamily StudiesFamily historyHbg testing (Electrophoresis or HPLC) on family members
DefiniteUntested or unknownFCCCUntested or unknownNml MCVBoth carriers CUntested or unknownUntested or unknown
DefiniteFCUntested or unknownCCUntested or unknownNml MCVBoth carriers CUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownCCFCNml MCVBoth carriers CUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownCCUntested or unknownUntested or unknownBoth Carriers C
ProbableUntested or unknownFCUntested or unknownFCUntested or unknownBoth carriersUntested or unknownUntested or unknown
ProbableFCFCUntested or unknownUntested or unknownUntested or unknownBoth Carriers CUntested or unknownUntested or unknown
ProbableFCUntested or unknownUntested or unknownFCUntested or unknownBoth carriersUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFCNml MCVUntested or unknownUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFCUntested or unknownUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFCUntested or unknownUntested or unknownUntested or unknownpositive

CD disease

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNANBS resultFamily StudiesFamily historyHPLC& IEF same sample
DefiniteFCDUntested or unknownKnown C and known D mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFCDKnown C and known D mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownKnown C and known D mutation identifiedFCDUntested or unknownUntested or unknownUntested or unknown
ProbableFCDFCDUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFCDUntested or unknownUntested or unknownFCDUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFCDUntested or unknownFCDUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFCDBoth carriers (1 with D and 1 with E)Untested or unknownUntested or unknown
ProbableFCDUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 with D and 1 with E)Untested or unknownUntested or unknown
ProbableUntested or unknownFCDUntested or unknownUntested or unknownBoth carriers (1 with D and 1 with E)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFCDUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownFCD

CE disease

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNANBS resultFamily StudiesFamily historyHPLC& IEF same sample
DefiniteFCEUntested or unknownKnown C and known E mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFCEKnown C and known E mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownKnown C and known E mutation identifiedFCEUntested or unknownUntested or unknownUntested or unknown
ProbableFCEFCEUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFCEUntested or unknownUntested or unknownFCEUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFCEUntested or unknownFCEUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFCEBoth carriers (1 with C and 1 with E)Untested or unknownUntested or unknown
ProbableFCEUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 with C and 1 with E)Untested or unknownUntested or unknown
ProbableUntested or unknownFCEUntested or unknownUntested or unknownBoth carriers (1 with C and 1 with E)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFCEUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownFCE

COArab disease

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNANBS resultFamily StudiesFamily historyHPLC& IEF same sample
DefiniteFCOARABUntested or unknownKnown C and known OARAB mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFCOARABKnown C and known OARAB mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownKnown C and known OARAB mutation identifiedFCOARABUntested or unknownUntested or unknownUntested or unknown
ProbableFCOARABFCOARABUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFCOARABUntested or unknownUntested or unknownFCOARABUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFCOARABUntested or unknownFCOARABUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFCOARABBoth carriers (1 carrier C and 1 carrier OARAB)Untested or unknownUntested or unknown
ProbableFCOARABUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 carrier C and 1 carrier OARAB)Untested or unknownUntested or unknown
ProbableUntested or unknownFCOARABUntested or unknownUntested or unknownBoth carriers (1 carrier C and 1 carrier OARAB)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFCOARABUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownFCOARAB

DD disease

CategoryQualitative (IEF or HPLC)Quantiative (HPLC or electrophoresis)DNA-NBS resultCBCFamily StudiesFamily historyHbg testing (Electrophoresis or HPLC) on family members
DefiniteFDUntested or unknownDDUntested or unknownNml MCVBoth carriers DUntested or unknownUntested or unknown
DefiniteUntested or unknownFDDDUntested or unknownNml MCVBoth carriers DUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownDDFDNml MCVBoth carriers DUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownDDUntested or unknownUntested or unknownBoth Carriers DUntested or unknownUntested or unknown
ProbableFDFDUntested or unknownUntested or unknownUntested or unknownBoth carriers DUntested or unknownUntested or unknown
ProbableUntested or unknownFDUntested or unknownFDUntested or unknownBoth carriersUntested or unknownUntested or unknown
ProbableFDUntested or unknownUntested or unknownFDUntested or unknownBoth carriersUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFDNml MCVUntested or unknownUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFDUntested or unknownUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFDUntested or unknownUntested or unknownUntested or unknownpositive

DE disease

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNANBS resultFamily StudiesFamily historyHPLC& IEF same sample
DefiniteFDEUntested or unknownKnown D and known E mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFDEKnown D and known E mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownKnown D and known E mutation identifiedFDEUntested or unknownUntested or unknownUntested or unknown
ProbableFDEFDEUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFDEUntested or unknownUntested or unknownFDEUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFDEUntested or unknownFDEUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFDEBoth carriers (1 carrier E and 1 carrier D)Untested or unknownUntested or unknown
ProbableFDEUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 carrier E and 1 carrier D)Untested or unknownUntested or unknown
ProbableUntested or unknownFDEUntested or unknownUntested or unknownBoth carriers (1 carrier E and 1 carrier D)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFDEUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownFDE

DOArab disease

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNANBS resultFamily StudiesFamily historyHPLC& IEF same sample
DefiniteFDOARABUntested or unknownKnown OARAB and known S mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFDOARABKnown OARAB and known S mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownKnown OARAB and known S mutation identifiedFDOARABUntested or unknownUntested or unknownUntested or unknown
ProbableFDOARABFDOARABUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFDOARABUntested or unknownUntested or unknownFDOARABUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFDOARABUntested or unknownFDOARABUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFDOARABBoth carriers (1 carrier C and 1 carrier OARAB)Untested or unknownUntested or unknown
ProbableFDOARABUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 carrier C and 1 carrier OARAB)Untested or unknownUntested or unknown
ProbableUntested or unknownFDOARABUntested or unknownUntested or unknownBoth carriers (1 carrier C and 1 carrier OARAB)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFDOARABUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownFDOARAB

EE disease

CategoryQualitative (IEF or HPLC)Quantiative (HPLC or electrophoresis)DNA- no deletion/duplication analysisNBS resultCBCFamily StudiesFamily historyHbg testing (Electrophoresis or HPLC) on family members
DefiniteFEUntested or unknownEEUntested or unknownNml MCVBoth carriers EUntested or unknownUntested or unknown
DefiniteUntested or unknownFEEEUntested or unknownNml MCVBoth carriers EUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownEEFENml MCVBoth carriers EUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownEEUntested or unknownUntested or unknownBoth Carriers EUntested or unknownUntested or unknown
ProbableFEFEUntested or unknownUntested or unknownUntested or unknownBoth carriers EUntested or unknownUntested or unknown
ProbableUntested or unknownFEUntested or unknownFEUntested or unknownBoth carriersUntested or unknownUntested or unknown
ProbableFEUntested or unknownUntested or unknownFEUntested or unknownBoth carriersUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFENml MCVUntested or unknownUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFEUntested or unknownUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFEUntested or unknownUntested or unknownUntested or unknownpositive

Homozygous OArab disease

CategoryQualitative (IEF or HPLC)Quantiative (HPLC or electrophoresis)DNA-NBS resultCBCFamily StudiesFamily historyHbg testing (Electrophoresis or HPLC) on family members
DefiniteFOARABUntested or unknownOARABOARABUntested or unknownNml MCVBoth carriers OARABUntested or unknownUntested or unknown
DefiniteUntested or unknownFOARABOARABOARABUntested or unknownNml MCVBoth carriers OARABUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownOARABOARABFOARABNml MCVBoth carriers OARABUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownOARABOARABUntested or unknownUntested or unknownBoth carriers OARABUntested or unknownUntested or unknown
ProbableFOARABFOARABUntested or unknownUntested or unknownUntested or unknownBoth carriers OARABUntested or unknownUntested or unknown
ProbableUntested or unknownFOARABUntested or unknownFOARABUntested or unknownBoth carriersUntested or unknownUntested or unknown
ProbableFOARABUntested or unknownUntested or unknownFOARABUntested or unknownBoth carriersUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFOARABNml MCVUntested or unknownUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFOARABUntested or unknownUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFOARABUntested or unknownUntested or unknownUntested or unknownpositive

SC disease

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNANBS resultFamily StudiesFamily historyHPLC& IEF same sample
DefiniteFSCUntested or unknownKnown C and known S mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFSCKnown C and known S mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownKnown C and known S mutation identifiedFSCUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownKnown C and known S mutation identifiedUntested or unknownUntested or unknownUntested or unknownFSC
ProbableFSCFSCUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFSCUntested or unknownUntested or unknownFSCUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFSCUntested or unknownFSCUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFSCBoth carriers ( 1 with C mutation and other with S mutation)Untested or unknownUntested or unknown
ProbableFSCUntested or unknownUntested or unknownUntested or unknownBoth carriers ( 1 with C mutation and other with S mutation)Untested or unknownUntested or unknown
ProbableUntested or unknownFSCUntested or unknownUntested or unknownBoth carriers ( 1 with C mutation and other with S mutation)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFSCUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownFSC

SD disease

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNANBS resultFamily StudiesFamily historyHPLC& IEF same sample
DefiniteFSDUntested or unknownKnown D and known S mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFSDKnown D and known S mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownKnown D and known S mutation identifiedFSDUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownKnown D and known S mutation identifiedUntested or unknownUntested or unknownUntested or unknownFSD
ProbableFSDFSDUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFSDUntested or unknownUntested or unknownFSDUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFSDUntested or unknownFSDUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFSDBoth carriers ( 1 with known S mutation and 1 with known D mutation)Untested or unknownUntested or unknown
ProbableFSDUntested or unknownUntested or unknownUntested or unknownBoth carriers ( 1 with known S mutation and 1 with known D)Untested or unknownUntested or unknown
ProbableUntested or unknownFSDUntested or unknownUntested or unknownBoth carriers ( 1 with known S mutation and 1 with known D)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFSDUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownFSD

SE disease

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNANBS resultFamily StudiesFamily historyHPLC& IEF same sample
DefiniteFSEUntested or unknownKnown E and known S mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFSEKnown E and known S mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownKnown E and known S mutation identifiedFSEUntested or unknownUntested or unknownUntested or unknown
ProbableFSEFSEUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFSEUntested or unknownUntested or unknownFSEUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFSEUntested or unknownFSEUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFSEBoth carriers ( 1 with known S mutation and 1 with known E)Untested or unknownUntested or unknown
ProbableFSEUntested or unknownUntested or unknownUntested or unknownBoth carriers ( 1 with known S mutation and 1 with knownE)Untested or unknownUntested or unknown
ProbableUntested or unknownFSEUntested or unknownUntested or unknownBoth carriers ( 1 with known S mutation and 1 with known E)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFSEUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownFSE

SOArab disease

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNANBS resultFamily StudiesFamily historyHPLC& IEF same sample
DefiniteFSOARABUntested or unknownKnown OARABand known S mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFSOARABKnown OARABand known S mutation identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownKnown OARABand known S mutation identifiedFSOARABUntested or unknownUntested or unknownUntested or unknown
ProbableFSOARABFSOARABUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFSOARABUntested or unknownUntested or unknownFSOARABUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFSOARABUntested or unknownFSOARABUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFSOARABBoth carriers ( 1 with known S mutation and 1 with known OARAB)Untested or unknownUntested or unknown
ProbableFSOARABUntested or unknownUntested or unknownUntested or unknownBoth carriers ( 1 with known S mutation and 1 with known OARAB)Untested or unknownUntested or unknown
ProbableUntested or unknownFSOARABUntested or unknownUntested or unknownBoth carriers ( 1 with known S mutation and 1 with known OARAB)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFSOARABUntested or unknownpositiveUntested or unknown
Poss ibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownFSOARAB

SS disease (Sickle cell anemia)

CategoryQualitative (IEF or HPLC)Quantiative (HPLC or electrophoresis)DNA-NBS resultCBCFamily StudiesFamily historyHbg testing (Electrophoresis or HPLC) on family members
DefiniteFSUntested or unknownSSUntested or unknownUntested or unknownBoth carriers SUntested or unknownUntested or unknown
DefiniteUntested or unknownFSSSUntested or unknownUntested or unknownBoth carriers SUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownSSFSUntested or unknownBoth carriers SUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownSSUntested or unknownUntested or unknownBoth carriers S
ProbableFSUntested or unknownUntested or unknownFSNml- high MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFSUntested or unknownFSUntested or unknownBoth carriers SUntested or unknownUntested or unknown
ProbableFSUntested or unknownUntested or unknownFSUntested or unknownBoth carriers SUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFSNml- high MCVUntested or unknownUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFSUntested or unknownUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFSUntested or unknownUntested or unknownUntested or unknownpositive

Hemoglobin Disorder: Hemoglobin Disorder: Beta Thalassemia Disorder

Beta + Thal

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily historyHPLC & IEF same sample
DefiniteUntested or unknownUntested or unknownSBeta + THALFSA or FSUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteFSAA2Untested or unknownSBeta + THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFSA with high A2SBeta + THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFSAA2FSA with high A2Untested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFSAA2Untested or unknownUntested or unknownFSA or FSUntested or unknownBoth carriers (1 each of Beta + THAL and S)Untested or unknownUntested or unknown
ProbableUntested or unknownFSA with high A2Untested or unknownFSA or FSLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFSAA2Untested or unknownUntested or unknownFSA or FSLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFSFSAUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 each of Beta + THAL and S)Untested or unknownUntested or unknown
ProbableFSAA2 x2Untested or unknownUntested or unknownFSA or FSLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFSAFSAUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 each of Beta + THAL and S)Untested or unknownUntested or unknown
ProbableUntested or unknownFSA with high A2Untested or unknownUntested or unknownLow MCVBoth carriers (1 each of Beta + THAL and S)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFSA or FSLow MCVBoth carriers (1 each of Beta + THAL and S)Untested or unknownUntested or unknown
PossibleUntested or unknownFSAUntested or unknownUntested or unknownLow MCVBoth carriers (1 each of Beta + THAL and S)Untested or unknownUntested or unknown
PossibleFSAA2Untested or unknownUntested or unknownUntested or unknownLow MCVBoth carriers (1 each of Beta + THAL and S)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFSA or FSLow MCVUntested or unknownPositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownLow MCVUntested or unknownUntested or unknownFSAA2

Beta Thal Major

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily history
DefiniteUntested or unknownUntested or unknownHomozygous for Point MutationFUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknown1 Point Mutation and 1 Partial DeletionFUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknown2 Partial DeletionsFUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknown2 heterozygous point mutationsFUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownHigh A2 (higher than normal)Untested or unknownFLow MCVBoth carriersUntested or unknown
ProbableF or FA (smaller A than expected)Untested or unknownUntested or unknownFLow MCVBoth carriersUntested or unknown
ProbableF or FA (smaller A than expected)High A2 (higher than normal)Untested or unknownFLow MCVUntested or unknownUntested or unknown
PossibleFUntested or unknownUntested or unknownUntested or unknownLow MCVBoth carriersUntested or unknown
PossibleUntested or unknownHigh A2 (higher than normal)Untested or unknownUntested or unknownLow MCV-Both CarriersUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFLow MCV-Untested or unknownpositive

C Beta (0) Thal

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily historyHPLC & IEF same sample
DefiniteUntested or unknownUntested or unknownC Beta 0 THALFCA2 or FCUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteFCA2Untested or unknownC Beta 0 THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFC high A2C Beta 0 THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFCA2 or FCFC high A2Untested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFCA2 or FCUntested or unknownUntested or unknownFCA2 or FCLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFC high A2Untested or unknownFCA2 or FCLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFCA2Untested or unknownUntested or unknownFCA2 or FCLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFCA2 or FCLow MCVBoth carriers (1 each of BetaTHAL and Beta C)Untested or unknownUntested or unknown
ProbableFCA2 or FC x2Untested or unknownUntested or unknownUntested or unknownLow MCVBoth carriers (1 each of BetaTHAL and Beta C)Untested or unknownUntested or unknown
ProbableUntested or unknownFC high A2Untested or unknownUntested or unknownLow MCVBoth carriers (1 each of BetaTHAL and Beta C)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFCA2 or FCLow MCVUntested or unknownPositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownLow MCVUntested or unknownUntested or unknownFCA2

C Beta + Thal

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily historyHPLC & IEF same sample
DefiniteUntested or unknownUntested or unknownC Beta + ThalFCA or FCUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteFCAA2Untested or unknownC Beta + ThalUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFCA with high A2C Beta + ThalUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFCAA2FCA with high A2Untested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFCAA2Untested or unknownUntested or unknownFCA or FCUntested or unknownBoth carriers (1 with Beta + thal and one for C)Untested or unknownUntested or unknown
ProbableUntested or unknownFCA with high A2Untested or unknownFCA or FCLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFCAA2Untested or unknownUntested or unknownFCA or FCLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFCAFCAUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 with Beta + thal and one for C)Untested or unknownUntested or unknown
ProbableFCAA2 x2Untested or unknownUntested or unknownFCA or FCLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFCAFCAUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 with Beta + thal and one for C)Untested or unknownUntested or unknown
ProbableUntested or unknownFCA with high A2Untested or unknownUntested or unknownLow MCVBoth carriers (1 with Beta + thal and one for C)Untested or unknownUntested or unknown
PossibleUntested or unknownFCAUntested or unknownUntested or unknownLow MCVBoth carriers (1 with Beta + thal and one for C)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFCA or FCLow MCVBoth carriers (1 with Beta + thal and one for C)Untested or unknownUntested or unknown
PossibleFCAA2Untested or unknownUntested or unknownUntested or unknownLow MCVBoth carriers (1 with Beta + thal and one for C)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFCA or FCLow MCVUntested or unknownPositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownLow MCVUntested or unknownUntested or unknownFCAA2

D Beta (0) Thal

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily historyHPLC & IEF same sample
DefiniteUntested or unknownUntested or unknownD Beta 0 ThalFDA2 or FDUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteFDA2Untested or unknownD Beta 0 THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFD high A2D Beta 0 THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFDA2FD high A2Untested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFDA2Untested or unknownUntested or unknownFDA2 or FDLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFD high A2Untested or unknownFDA2 or FDLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFDA2 or FD x 2Untested or unknownUntested or unknownFDA2 or FDLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFDA2 or FDLow MCVBoth carriers (1 each of BetaTHAL and Beta D)Untested or unknownUntested or unknown
ProbableFDA2x2Untested or unknownUntested or unknownUntested or unknownLow MCVBoth carriers (1 each of BetaTHAL and Beta D)Untested or unknownUntested or unknown
ProbableUntested or unknownFD high A2Untested or unknownUntested or unknownLow MCVBoth carriers (1 each of BetaTHAL and Beta D)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFDA2 or FDLow MCVUntested or unknownPositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownLow MCVUntested or unknownUntested or unknownFDA2

D Beta + Thal

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily historyHPLC & IEF same sample
DefiniteUntested or unknownUntested or unknownD Beta + ThalFDA or FDUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteFDAA2Untested or unknownD Beta + THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFDA with high A2D Beta + THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFDAA2FDA with high A2Untested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFDAA2Untested or unknownUntested or unknownFDA or FDUntested or unknownBoth carriers (1 with Beta + thal and one for D)Untested or unknownUntested or unknown
ProbableUntested or unknownFDA with high A2Untested or unknownFDA or FDLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFDAA2Untested or unknownUntested or unknownFDA or FDLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFDFDAUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 with Beta + thal and one for D)Untested or unknownUntested or unknown
ProbableFDAA2 x2Untested or unknownUntested or unknownFDA or FDLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFDAFDAUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 with Beta + thal and one for D)Untested or unknownUntested or unknown
ProbableUntested or unknownFDA with high A2Untested or unknownUntested or unknownLow MCVBoth carriers (1 with Beta + thal and one for D)Untested or unknownUntested or unknown
PossibleUntested or unknownFDAUntested or unknownUntested or unknownLow MCVBoth carriers (1 with Beta + thal and one for D)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFDA or FDLow MCVBoth carriers (1 with Beta + thal and one for D)Untested or unknownUntested or unknown
PossibleFDAA2 x2Untested or unknownUntested or unknownUntested or unknownLow MCVBoth carriers (1 with Beta + thal and one for D)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFDA or FDLow MCVUntested or unknownPositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownLow MCVUntested or unknownUntested or unknownFDAA2 x2

E Beta (0) Thal

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily historyHPLC & IEF same sample
DefiniteUntested or unknownUntested or unknownEBeta 0 THALFEA2 or FEUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteFEA2 or FEUntested or unknownEBeta 0 THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFE high A2EBeta 0 THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFEA2 or FEFE high A2Untested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFEA2 or FEUntested or unknownUntested or unknownFEA2 or FELow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFE high A2Untested or unknownFEA2 or FELow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFEFE high A2Untested or unknownUntested or unknownUntested or unknownBoth carriers (1 each of BetaTHAL and Beta S)Untested or unknownUntested or unknown
ProbableFEA2Untested or unknownUntested or unknownFEA2 or FELow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFEA2 or FELow MCVBoth carriers (1 each of BetaTHAL and Beta S)Untested or unknownUntested or unknown
ProbableFEA2 or FE x2Untested or unknownUntested or unknownUntested or unknownLow MCVBoth carriers (1 each of BetaTHAL and Beta S)Untested or unknownUntested or unknown
ProbableUntested or unknownFE high A2Untested or unknownUntested or unknownLow MCVBoth carriers (1 each of BetaTHAL and Beta S)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFEA2 or FELow MCVUntested or unknownPositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownLow MCVUntested or unknownUntested or unknownFEA2

E Beta + Thal

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily historyHPLC & IEF same sample
DefiniteUntested or unknownUntested or unknownE Beta + ThalFEA or FEUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteFEAA2Untested or unknownE Beta + ThalUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFEA with high A2E Beta + ThalUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFEAA2FEA with high A2Untested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFEAA2Untested or unknownUntested or unknownFEA or FEUntested or unknownBoth carriers (1 with Beta + thal and one for E)Untested or unknownUntested or unknown
ProbableUntested or unknownFEA with high A2Untested or unknownFEA or FELow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFEAA2Untested or unknownUntested or unknownFEA or FELow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFEFEAUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 with Beta + thal and one for E)Untested or unknownUntested or unknown
ProbableFEAA2x2Untested or unknownUntested or unknownFEA or FELow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFEAFEAUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 with Beta + thal and one for E)Untested or unknownUntested or unknown
ProbableUntested or unknownFEA with high A2Untested or unknownUntested or unknownLow MCVBoth carriers (1 with Beta + thal and one for E)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFEA or FELow MCVBoth carriers (1 with Beta + thal and one for E)Untested or unknownUntested or unknown
PossibleFEAA2x2Untested or unknownUntested or unknownUntested or unknownLow MCVBoth carriers (1 with Beta + thal and one for E)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFEA or FELow MCVUntested or unknownPositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownLow MCVUntested or unknownUntested or unknownFEAA2x2

FCHPFH

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily history
DefiniteUntested or unknownUntested or unknown1 mutation With known C mutationFCLow MCVUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknown1 deletion and known C mutationFCLow MCVUntested or unknownUntested or unknown
ProbableFCFCUntested or unknownUntested or unknownLow MCVDocumented carriers of HPFH and CUntested or unknown
ProbableFCUntested or unknownUntested or unknownFCLow MCVDocumented carriers of HPFH and CUntested or unknown
PossibleUntested or unknownFCUntested or unknownFCLow MCVUntested or unknownUntested or unknown
PossibleFCUntested or unknownUntested or unknownFCLow MCVUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFCLow MCVDocumented carriers of HPFH and CUntested or unknown
PossibleFCUntested or unknownUntested or unknownUntested or unknownLow MCVDocumented carriers of HPFH and CUntested or unknown
PossibleUntested or unknownFCUntested or unknownUntested or unknownLow MCVDocumented carriers of HPFH and CUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFCLow MCVUntested or unknownPositive

FEHPFH

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily history
DefiniteUntested or unknownUntested or unknown1 deletion and known E mutationFELow MCVUntested or unknownUntested or unknown
ProbableFEFEUntested or unknownUntested or unknownLow MCVDocumented carriers of HPFH and EUntested or unknown
ProbableFEUntested or unknownUntested or unknownFELow MCVDocumented carriers of HPFH and EUntested or unknown
ProbableUntested or unknownFEUntested or unknownFELow MCVDocumented carriers of HPFH and EUntested or unknown
PossibleFEUntested or unknownUntested or unknownFELow MCVUntested or unknownUntested or unknown
PossibleFEUntested or unknownUntested or unknownFELow MCVUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFELow MCVDocumented carriers of HPFH and EUntested or unknown
PossibleFEUntested or unknownUntested or unknownUntested or unknownLow MCVDocumented carriers of HPFH and EUntested or unknown
PossibleUntested or unknownFEUntested or unknownUntested or unknownLow MCVDocumented carriers of HPFH and EUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFELow MCVUntested or unknownPositive
C and E will not have normal MCV with HPFH - do not reference MCV

FOArabHPFH

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily history
DefiniteUntested or unknownUntested or unknown1 mutation With known OARAB mutationFOARABUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknown1 deletion and known OARAB mutationFOARABUntested or unknownUntested or unknownUntested or unknown
ProbableFOARABFOARABUntested or unknownUntested or unknownUntested or unknownDocumented carriers of HPFH and OARABUntested or unknown
ProbableFOARABUntested or unknownUntested or unknownFOARABUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or UnknownFOARABUntested or unknownFOARABUntested or unknownUntested or unknownUntested or unknown
ProbableFOARABUntested or unknownUntested or unknownFOARABUntested or unknownDocumented carriers of HPFH and OARABUntested or unknown
PossibleFOARABUntested orUntested or unknownFOARABNormal MCVUntested orUntested or
unknownunknownunknown
PossibleUntested or unknownFOARABUntested or unknownFOARABNormal MCVUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFOARABNormal MCVDocumented carriers of HPFH and OARABUntested or unknown
PossibleFOARABUntested or unknownUntested or unknownUntested or unknownNormal MCVDocumented carriers of HPFH and OARABUntested or unknown
PossibleUntested or unknownFOARABUntested or unknownUntested or unknownNormal MCVDocumented carriers of HPFH and OARABUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFOARABNormal MCVUntested or unknownPositive

FSHPFH

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily history
DefiniteUntested or unknownUntested or unknown1 mutation With known S mutationFSUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknown1 deletion and known S mutationFSUntested or unknownUntested or unknownUntested or unknown
ProbableFSFSUntested or unknownUntested or unknownUntested or unknownDocumented carriers of HPFH and SUntested or unknown
PossibleUntested or unknownFSUntested or unknownFSUntested or unknownUntested or unknownUntested or unknown
ProbableFSUntested or unknownUntested or unknownFSUntested or unknownDocumented carriers of HPFH and SUntested or unknown
PossibleFSUntested or unknownUntested or unknownFSNormal MCVUntested or unknownUntested or unknown
PossibleUntested or unknownFSUntested or unknownFSNormal MCVUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFSNormal MCVDocumented carriers of HPFH and SUntested or unknown
PossibleFSUntested or unknownUntested or unknownUntested or unknownNormal MCVDocumented carriers of HPFH and SUntested or unknown
PossibleUntested or unknownFSUntested or unknownUntested or unknownNormal MCVDocumented carriers of HPFH and SUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFSNormal MCVUntested or unknownPositive

HPFH

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily history
DefiniteUntested or unknownUntested or unknownHomozygous for Point MutationFUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknown1 Point Mutation and 1 DeletionFUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknown2 DeletionsFUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknown2 heterozygous point mutationsFUntested or unknownUntested or unknownUntested or unknown
ProbableFFUntested or unknownUntested or unknownUntested or unknownBoth CarriersUntested or unknown
ProbableFUntested or unknownUntested or unknownFUntested or unknownBoth CarriersUntested or unknown
ProbableUntested or unknownFUntested or unknownFUntested or unknownBoth CarriersUntested or unknown
ProbableFUntested or unknownUntested or unknownFUntested or unknownBoth CarriersUntested or unknown
PossibleFUntested or unknownUntested or unknownFNormal MCVUntested or unknownUntested or unknown
PossibleUntested or unknownFUntested or unknownFNormal MCVUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFNormal MCVBoth carriersUntested or unknown
PossibleFUntested or unknownUntested or unknownUntested or unknownNormal MCVBoth carriersUntested or unknown
PossibleUntested or unknownFUntested or unknownUntested or unknownNormal MCVBoth carriersUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFNormal MCVUntested or unknownPositive

O Arab Beta (0) Thal

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily historyHPLC & IEF same sample
DefiniteUntested or unknownUntested or unknownOArab Beta 0 THALFOARABA2 or FOARABUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteFOARABA2Untested or unknownOArab Beta 0 THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFOARAB High A2OArab Beta 0 THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFOARABA2FOARAB High A2Untested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFOARABA2Untested or unknownUntested or unknownFOARABA2 or FOARABLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFOARAB High A2Untested or unknownFOARABA2 or FOARABLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFOARABA2 x2Untested or unknownUntested or unknownFOARABA2 or FOARABLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFOARABA2 or FOARABLow MCVBoth carriers (1 each of BetaTHAL and Beta O Arab)Untested or unknownUntested or unknown
ProbableFOARABA2 x2Untested or unknownUntested or unknownUntested or unknownLow MCVBoth carriers (1 each of BetaTHAL and Beta O Arab)Untested or unknownUntested or unknown
ProbableUntested or unknownFOARAB High A2Untested or unknownUntested or unknownLow MCVBoth carriers (1 each of BetaTHAL and Beta O Arab)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFOARABA2 or FOARABLow MCVUntested or unknownPositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownLow MCVUntested or unknownUntested or unknownFOARABA2

O Arab Beta +Thal

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily historyHPLC & IEF same sample
DefiniteUntested or unknownUntested or unknownOArab Beta + THALFOARABA or FOARABUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteFOARABAA2Untested or unknownOArab Beta + THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFOARAB A with high A2OArab Beta + THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFOARABAA2FOARAB A with high A2Untested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFOARABAA2 x2Untested or unknownUntested or unknownFOARABA or FOARABUntested or unknownBoth carriers (1 Beta + Thal and OARABUntested or unknownUntested or unknown
ProbableUntested or unknownFOARAB A with high A2Untested or unknownFOARABA or FOARABLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFOARABAA2Untested or unknownUntested or unknownFOARABA or FOARABLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFOARABFOARABAUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 Beta + Thal and OARABUntested or unknownUntested or unknown
ProbableFOARABAA2 x2Untested or unknownUntested or unknownFOARABA or FOARABLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFOARABAFOARABAUntested or unknownUntested or unknownUntested or unknownBoth carriers (1 Beta + Thal and OARABUntested or unknownUntested or unknown
ProbableUntested or unknownFOARAB A with high A2Untested or unknownUntested or unknownLow MCVBoth carriers (1 Beta + Thal and OARABUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFOARABA or FOARABLow MCVBoth carriers (1 Beta + Thal and OARABUntested or unknownUntested or unknown
PossibleUntested or unknownFOARAB AUntested or unknownUntested or unknownLow MCVBoth carriers (1 Beta + Thal and OARABUntested or unknownUntested or unknown
PossibleFOARABAA2Untested or unknownUntested orUntested orLow MCVBoth carriers (1 Beta + Thal and OARABUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFOARABAA2Low MCVUntested or unknownPositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownLow MCVUntested or unknownUntested or unknownFOARABAA2

S Beta (0) Thal

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily historyHPLC & IEF same sample
DefiniteUntested or unknownUntested or unknownSBeta 0 THALFSA2 or FSUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteFSA2 or FSUntested or unknownSBeta 0 THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFS high A2SBeta 0 THALUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFSA2 or FSFS high A2Untested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFSA2 or FSUntested or unknownUntested or unknownFSA2 or FSLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFS high A2Untested or unknownFSA2 or FSLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFSFS high A2Untested or unknownUntested or unknownUntested or unknownBoth carriers (1 each of BetaTHAL and Beta S)Untested or unknownUntested or unknown
ProbableFSA2 or FSUntested or unknownUntested or unknownFSA2 or FSLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFSA2 or FSLow MCVBoth carriers (1 each of BetaTHAL and Beta S)Untested or unknownUntested or unknown
ProbableFSA2 or FS x2Untested or unknownUntested or unknownUntested or unknownLow MCVBoth carriers (1 each of BetaTHAL and Beta S)Untested or unknownUntested or unknown
ProbableUntested or unknownFS high A2Untested or unknownUntested or unknownLow MCVBoth carriers (1 each of BetaTHAL and Beta S)Untested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFSA2 or FSLow MCVUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownLow MCVUntested or unknownUntested or unknownFSA2

Hemoglobin Disorder: Hemoglobin Disorder: Alpha Thalassemia Disorder

C Alpha Thal

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily historyHPLC& IEF same sample
DefiniteFC+BartsUntested or unknownKnown C mutation and Deletion in alpha geneUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFC+BartsKnown C mutation and Deletion in alpha geneUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownKnown C mutation and Deletion in alpha geneFC+BartsLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFC+BartsFC+BartsUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFC+BartsUntested or unknownUntested or unknownFC+BartsLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFC+BartsUntested or unknownFC+BartsLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFC+BartsUntested or unknownUntested or unknownFC+BartsLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFC+BartsLow MCVBoth carriersUntested or unknownUntested or unknown
ProbableFC+BartsUntested or unknownUntested or unknownUntested or unknownLow MCVBoth carriersUntested or unknownUntested or unknown
ProbableUntested or unknownFC+BartsUntested or unknownUntested or unknownLow MCVBoth CarriersUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFC+BartsLow MCVUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownLow MCVUntested or unknownUntested or unknownFC+Barts

D Alpha Thal

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily historyHPLC& IEF same sample
DefiniteFD+BartsUntested or unknownKnown C mutation and Deletion in alpha geneUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFD+BartsKnown C mutation and Deletion in alpha geneUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownKnown C mutation and Deletion in alpha geneFD + BartsLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFD+BartsFD+BartsUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFD+BartsUntested or unknownUntested or unknownFD+BartsLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFD+BartsUntested or unknownFD+BartsLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFD+BartsLow MCVBoth carriersUntested or unknownUntested or unknown
ProbableFD+BartsUntested or unknownUntested or unknownUntested or unknownLow MCVBoth carriersUntested or unknownUntested or unknown
ProbableUntested or unknownFD+BartsUntested or unknownUntested or unknownLow MCVBoth CarriersUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFD+BartsLow MCVUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownLow MCVUntested or unknownUntested or unknownFD+Barts

3 Deletion Alpha Thalassemia (Hgb H disease)

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA-based testingNBS ResultCBC ResultsFamily DNA StudiesFamily historyHPLC& IEF same sample
DefiniteUntested or unknown> 25% Barts by HPLC in newborn period3 alpha gene defects (deletions or mutations)Untested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknown3 alpha gene defects (deletions or mutations)Barts or Hgb HUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownBarts or Hgb HLow MCVParents with known carriers of 2 gene deletion and 1 gene deletion or point mutationHistory of SAB/miscarriage or early termination of pregnancyUntested or unknown
ProbablePersistent BartsUntested or unknownUntested or unknownBarts or Hgb HUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownPersistent BartsUntested or unknownBarts or Hgb HUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableElevated Hgb HUntested or unknownUntested or unknownBarts or Hgb HUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownElevated Hgb HUntested or unknownBarts or Hgb HUntested or unknownUntested or unknownUntested or unknownUntested or unknown
PossibleNmlUntested or unknownUntested or unknownBarts or Hgb HUntested or unknownUntested or unknownUntested or unknownUntested or unknown
PossibleUntested or unknownNmlUntested or unknownBarts or Hgb HUntested or unknownUntested or unknownUntested or unknownUntested or unknown

Hgb H Constant Spring (2 alpha gene deletion (cis) plus Constant Spring point mutation (trans)

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily DNA StudiesFamily historyHPLC& IEF same sample
DefiniteConstant Spring band identifiedUntested or unknown3 alpha gene deletions and Constant spring mutationUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownConstant Spring band identified3 alpha gene deletions and Constant spring mutationUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknown3 alpha gene deletions and Constant spring mutationBarts or Hgb HUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableConstant Spring band identifiedUntested or unknownUntested or unknownBarts or Hgb HUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownConstant Spring band identifiedUntested or unknownBarts or Hgb HUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownBarts or Hgb HLow MCVParents with known carriers of 2 gene and 1 gene deletion and one with Constant Spring mutationUntested or unknownUntested or unknown
ProbableUntested or unknownConstant Spring band identifiedUntested or unknownUntested or unknownUntested or unknownParents with known carriers of 2 gene and 1 gene deletion and one with Constant Spring mutationUntested or unknownUntested or unknown
ProbableConstant Spring band identifiedUntested or unknownUntested or unknownUntested or unknownUntested or unknownParents with known carriers of 2 gene and 1 gene deletion and one with Constant Spring mutationUntested or unknownUntested or unknown
PossibleNmlUntested or unknownUntested or unknownBarts or Hgb HUntested or unknownUntested or unknownUntested or unknownUntested or unknown
PossibleUntested or unknownNmlUntested or unknownBarts or Hgb HUntested or unknownUntested or unknownUntested or unknownUntested or unknown

OArab Alpha Thal

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily historyHPLC& IEF same sample
DefiniteFOARAB+BartsUntested or unknownKnown OArab mutation and Deletion in alpha geneUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFOARAB+BartsKnown OArab mutation and Deletion in alpha geneUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownKnown OArab mutation and Deletion in alpha geneFOARAB+BartsLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFOARAB+BartsUntested or unknownFOARAB+BartsLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFOARABTraceAA2FOARAB+BartsUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFOARAB+BartsUntested or unknownUntested or unknownFOARAB+BartsLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFOARAB+BartsLow MCVBoth carriersUntested or unknownUntested or unknown
ProbableFOARAB+BartsUntested or unknownUntested or unknownUntested or unknownLow MCVBoth carriersUntested or unknownUntested or unknown
ProbableUntested or unknownFOARAB+BartsUntested or unknownUntested or unknownLow MCVBoth CarriersUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownFOARAB+BartsLow MCVUntested or unknownpositiveUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownLow MCVUntested or unknownUntested or unknownFOARAB+Barts

S Alpha Thal

CategoryQualitative (IEF or HPLC)Quantitative (HPLC or electrophoresis)DNA sequencing and deletionNBS resultCBC ResultsFamily StudiesFamily historyHPLC& IEF same sample
DefiniteFS+BartsUntested or unknownHomozygous S mutation and pathological gene changes found in 1-3 of the alpha genesUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownFS+BartsHomozygous S mutation and pathological gene changes found in 1-3 of the alpha genesUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
DefiniteUntested or unknownUntested or unknownHomozygous S mutation and pathological gene changes found in 1-3 of the alpha genesFS + BartsLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFS+BartsFS+BartsUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknownUntested or unknown
ProbableFS+BartsUntested or unknownUntested or unknownFS+BartsLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownFS+BartsUntested or unknownFS+BartsLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableFS+Barts x2Untested or unknownUntested or unknownFS+BartsLow MCVUntested or unknownUntested or unknownUntested or unknown
ProbableUntested or unknownUntested or unknownUntested or unknownFS+BartsLow MCVBoth parents with AS & amount of S <35%; low MCH & ruled out iron deficiencyUntested or unknownUntested or unknown
ProbableFS+BartsUntested or unknownUntested or unknownUntested or unknownLow MCVBoth parents with AS & amount of S <35%; low MCH & ruled out iron deficiencyUntested or unknownUntested or unknown
ProbableUntested or unknownFS+BartsUntested or unknownUntested or unknownLow MCVBoth parents wh AS & amount of S <35%; low MCH & ruled out iron deficiencyUntested or unknownUntested or unknown
PossibleUntested or unknownUntested or unknownUntested or unknownUntested or unknownLow MCVUntested or unknownUntested or unknownFS+Barts

Lysosomal Storage Disorder

Mucopolysaccharidosis I (MPS I)

ClassificationDisorderMutation StatusEnzyme ActivityUrine GAGSClinical Symptoms/ Lab Findings
DefiniteMPS I - severeAllele 1 - pathogenic* and associated with severe disease and Allele 2 - pathogenic and associated with severe disease #Within lab known affected rangeElevated
DefiniteMPS I - severity not determinedAllele 1 - pathogenic* or likely pathogenic and Allele 2 - variant with uncertain significanceWithin lab known affected rangeElevated
DefiniteMPS I - severity not determinedNot Done/unknownWithin lab known affected rangeElevated
ProbableMPS I - severeAllele 1 - pathogenic* and associated with severe disease and Allele 2 - pathogenic* and associated with severe disease #Within lab known affected rangeNot done/ UKNOWN
ProbableMPS I - severeAllele 1 - pathogenic* and associated with severe disease and Allele 2 - pathogenic* and associated with severe disease #UnknownNot done/ UKNOWN
DefiniteMPS I AttenuatedAllele 1 - pathogenic* and associated with severe disease and Allele 2 - variant known to be associated with ATTENUATED Disease #Within lab known affected rangeElevatedSymptoms present and documented by specialists. PH program continued to collect data through the development of symptoms**
DefiniteMPS I AttenuatedAllele 1 - variant known to be associated with ATTENUATED Disease and Allele 2 - variant known to be associated with ATTENUATED Disease #Within lab known affected rangeElevated
ProbableMPS I AttenuatedAllele 1 - pathogenic* and associated with severe disease and Allele 2 - variant known to be associated with ATTENUATED Disease #Unknown/Not DoneUnknown/Not DoneSymptoms present and documented by specialists. PH program continued to collect data through the development of symptoms**
PossibleMPS I AttenuatedAllele 1 - pathogenic* and associated with severe disease and Allele 2 - variant known to be associated with ATTENUATED Disease #Within lab known affected rangeNot done/ UKNOWNUKNOWN
PossibleMPS I AttenuatedAllele 1 - pathogenic* and associated with severe disease and Allele 2 - variant known to be associated with ATTENUATED Disease #UnknownNot done/ UKNOWN
PossibleMPS I - severity not determinedAllele 1 - pathogenic* and associated with severe disease and Allele 2 - variant of unknown significanceUnknownNot done/ UKNOWNSymptoms present and documented by specialists. PH program continued to collect data through the development of symptoms**
PossibleMPS I AttenuatedAllele 1 - pathogenic* and associated with severe disease and Allele 2 - variant of unknown significanceUnknownNot done/ UKNOWNNo 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

ClassificationDisorderMutation StatusBlood (not DBS sample)Skin/Muscle testingCardiac Involvement consistent with PompeLab FindingsClinical Findings
DefiniteInfantile Onsent Pompe DiseaseAllele 1 - pathogenic and associated with infantile onset and Allele 2 - pathogenic and associated with infantile onsetWithin lab known affected range for infantile onset (IO)Not done or positive skin or muscle bxPositive findings on Chest X-ray/EKG/ECHO in newborn periodUnknown/ Not Done
DefiniteInfantile Onsent Pompe DiseaseUnknown or not doneWithin lab known affected range for IONot done or positive skin or muscle bxPositive findings on Chest X-ray/EKG/ECHO in newborn periodElevated CK/AST/ALT/LDH/Urine Hex4
DefiniteInfantile Onsent Pompe DiseaseAllele 1 - pathogenic and associated with infantile onset, 1 novel variant that is likely pathogenicWithin lab known affected range for IONot done or positive skin or muscle bxPositive findings on Chest X-ray/EKG/ECHO in newborn periodElevated CK/AST/ALT/LDH/Urine Hex4
DefiniteInfantile Onsent Pompe DiseaseAllele 1 - pathogenic and associated with infantile onset and Allele 2 - pathogenic and associated with infantile onsetWithin lab known affected range for IONot done or positive skin or muscle bxPositive findings on Chest X-ray/EKG/ECHO in newborn periodElevated CK/AST/ALT/LDH/Urine Hex4
DefiniteInfantile Onsent Pompe Disease1 pathogenic* or likely pathogenic variant, with deletion or duplication consistent with infantile onsetWithin lab known affected range for IONot donePositive findings on Chest X-ray/EKG/ECHO in newborn periodElevated CK/AST/ALT/LDH/Urine Hex4
DefiniteInfantile Onsent Pompe DiseaseAllele 1 - pathogenic and associated with infantile onset and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significanceLow (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 bxPositive findings on Chest X-ray/EKG/ECHO in newborn periodElevated CK/AST/ALT/LDH/Urine Hex4
ProbableInfantile Onsent Pompe DiseaseAllele 1 - pathogenic and associated with infantile onset and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significanceWithin lab known affected range for IOUnknown/ not donePositive findings on Chest X-ray/EKG/ECHOUnknown/ Not Done
ProbableInfantile Onsent Pompe Disease1 pathogenic* or likely pathogenic variant, no other variants found, dup/del testing not done or not knownWithin lab known affected range for IOUnknown/ not donePositive findings on Chest X-ray/EKG/ECHOElevated CK/AST/ALT/LDH/Urine Hex4
DefiniteLate Onset Pompe diseaseAllele 1 - pathogenic and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significanceWithin lab known affected range for LOUnknown/ not doneNoElevated CK/AST/ALT/LDH/Urine Hex4Symptoms present after 1 year of age and documented by specialists. PH program continued to collect data through the development of symptoms**
DefiniteLate Onset Pompe diseaseAllele 1 - pathogenic and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significanceWithin lab known affected range for LOUnknown/ not doneNoElevated CK/AST/ALT/LDH/Urine Hex4Symptoms present before 1 year of age but no cardiac involvement
ProbableLate Onset Pompe diseaseAllele 1 - pathogenic and Allele 2 - pathogenic and associated with non-classical disease, or variant of uncertain significanceWithin lab known affected range for LOUnknown/ not doneNoElevated CK/AST/ALT/LDH/Urine Hex4Unknown or not reported to PH to program by the end of follow-up
PossibleLate Onset Pompe diseaseAllele 1 - pathogenic* and associated with infantile onset and Allele 2 - pathogenic*Low (above affected range, for LO not normal)Unknown/ not doneNoNot present
PossibleLate Onset Pompe diseaseAllele 1 - pathogenic* and associated with infantile onset, no other variants detected; Duplication/deletion testing not completed or unknownWithin lab known affected range for LOUnknown/ not doneNoNot present
DefiniteLate Onset Pompe diseaseAllele 1 - pathogenic* and associated with infantile onset, no other variants detected; Duplication/deletion testing not completed or unknownWithin lab known affected range for LOUnknown/ not doneNoElevated CK/AST/ALT/LDH/Urine Hex4Symptoms present after 1 year of age and documented by specialists. PH program continued to collect data through the development of symptoms**
PossibleLate Onset Pompe disease1 pathogenic* or likely pathogenic variant, no other variants foundWithin lab known affected rangeUnknown/ not doneNoElevated CK/AST/ALT/LDH/Urine Hex4
PossibleLate Onset Pompe disease2 pathogenic* or likely pathogenic variant, no other variants foundWithin lab known affected rangeUnknown/ not doneNoNot 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

ClassificationPlasma amino acidsMutation analysisEnzyme Studies
Definite2 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)
DefiniteEnzyme analysis consistent with Arginase deficiency
ProbableElevated Arginine1 known disease causing mutation
PossibleElevated Arginine

Biotinidase deficiency (BIOT)

ClassificationEnzyme LevelsMutation analysis
Definite- profoundUntested or unknown2 known profound disease causing mutations in the same gene
Definite- partialUntested or unknown2 known hypomorphic mutations in the same gene
Probable Profound<10% normal activityUntested or unknown
Probable Partial10-30% normal activityUntested or unknown

Classic galactosemia (GALT)

ClassificationGALT LevelsGal-1-P levelUrine GalactitolMutation analysis
DefiniteDefinite 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)
DefiniteElevated2 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)]
DefiniteElevated2 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)]
DefiniteElevated2 variants of uncertain significance in the same gene [Allele 1 - variant of unknown significance and Allele 2 – variant of unknown significance]
DefiniteElevated2 variants of uncertain significance in the same gene [Allele 1 - variant of unknown significance and Allele 2 – variant of unknown significance]
DefiniteElevated1 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)
DefiniteElevated2 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)
ProbableElevated
ProbableElevated
Probable1 known disease causing mutation (Allele 1 – variant known to be disease causing)
Probable2 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%

Leaky SCID

Classification:CD3 T cells/ mLProliferationMaternal engraftment Y/NMolecular testingClinical Presentation
Definite300-1500, few naive T cells, oligoclonal T cells or poor T cell diversity10-50% normal PHANoUnknown or not done
Definite300-1500, few naive T cells10-50% normal PHANoConsistent with SCID^
Possible300-1500, few naive T cellsUnknown or anyNoUnknown or not done
Definite300-1500, few naive T cellsUnknown or anyNoConsistent with SCID^
PossibleAny number10-30% normal PHA or
Absent to Candida/TT
NoUnknown or not done
DefiniteAny number10-30% normal PHA or
Absent to Candida/TT
NoConsistent 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

ClassificationFindings
Syndromes with low T-cell numbersRecognized 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 lymphopeniaCongenital 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 alonePreterm 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/ mLProliferation to PHAMaternal engraftment Y/NMolecular testingClinical Presentation
Definite>80%CD45RO+10-50%normalNoConsistent with OS/SCID^^Consistent with OS**
Definite>80%CD45RO+10-50%normalNoUntested or unknownConsistent with OS**
Definite>80%CD45RO+10-50%normalNoNo variant reported, ruled out 22q11 and FOXN1Consistent with OS**
Probable>80%CD45RO+Untested or unknownNoConsistent with OS/SCID^^Consistent with OS**
Probable>80%CD45RO+10-50%normalUnknownUntested or unknownConsistent with OS**
Uncertain>80%CD45RO+Untested or unknownUntested or UnknownUntested or unknownConsistent 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 cystic fibrosis (CF)

ClassificationClinicalSweat ChlorideNon Newborn Screen MolecularNewborn Screen MolecularNBS Result
Definite>=60 mmol/L (regardless of age)
Definite>=60 mmol/L (regardless of age)2 CF disease-causing mutationsNot available or not done
DefiniteNo valid sweat chloride result available2 CF disease-causing mutations2 CF disease-causing mutations
No known medical condition associated with false positive sweat chlorideTWO results >=60 mmol/L (regardless of age,
Definitetwo independent results from separate days)Not available or not doneNot available or not done
2 CF disease-causing mutations and2 CF disease-causing mutations
1 or both have been shown to have lower chlorides (see CFTR2)and
Definite<60 mmol/L1 or both have been previously shown to have lower chlorides, (see CFTR2)
ProbableNo valid sweat chloride result availableNot available or not done2 CF-causing mutations
ProbableNo valid sweat chloride result available2 CF-causing mutationsNot available or not done
Probable>=60 mmol/L (single test, regardless of age)Not available or not done2 Mutations of varying clinical consequence
Probable>=60 mmol/L (single test, regardless of age)Not available or not done2 Mutations of unknown clinical significance
>=60 mmol/L (single test, regardless of age)2 Mutations of varying clinical consequence
ProbableNot available or not done
>=60 mmol/L (single test, regardless of age)2 Mutations of unknown clinical significance
ProbableNot available or not done
2 CF disease-causing mutations and
1 or both have been previously shown to have lower chlorides
Probable<60 mmol/LNot available or not done

Typical SCID

Classification:CD3 T cells/ mLProliferation to PHAMaternal engraftment Y/NMolecular testingClinical Presentation
Definite<300 autologous T Cells, undetectable or very few naive T cells<10% of normalYesConsistent with SCID^
Definite<300 autologous T Cells, undetectable or very few naive T cells<10% of normalYesUnknown or not done
Definite<300 autologous T Cells, undetectable or very few naive T cellsUnknown or anyYesConsistent with SCID^
DefiniteAny number<10% of normalYesConsistent with SCID^
Definite<300 autologous T Cells, undetectable or very few naive T cells<10% of normalNoConsistent with SCID^
Probable<300 autologous T Cells, undetectable or very few naive T cells<10% of normalNoUnknown or not done
ProbableAny number<10% of normalNoConsistent with SCID^
ProbableAny number<10% of normalYesUnknown or not done
ProbableAny numberUnknown or anyYesNone or inconclusive
ProbableAny numberUnknown or anyYesConsistent with SCID^
Possible<300 autologous T Cells, undetectable or very few naive T cells<10% of normalUntested or unknownUntested or unknownUntested or unknown
Possible<300 autologous T Cells, undetectable or very few naive T cellsUnknown or anyNoUnknown or not done
Possible<300 autologous T Cells, undetectable or very few naive T cellsUnknown or anyNoConsistent with SCID^
Probable<300 autologous T Cells, undetectable or very few naive T cellsUnknown or anyYesUnknown or not done
PossibleAny numberUnknown or anyNoConsistent with SCID^
PossibleAny number<10% of normalNoNone or inconclusive
UncertainAny numberUnknown or anyNoUnknown 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

Variant galactosemia

ClassificationGALT LevelsGal-1-P levelUrine GalactitolMutation analysisProtein phenotyping
Definite1 known classic galactosemia disease causing mutation and 1 known variant galactosemia mutation
Definite-10%-30%Elevated1 known disease causing mutation and 1 mutation of uncertain significance- predicted to be pathogenic
Definite10%-30%Elevated1 known disease causing mutation and 1 mutation of uncertain significance- predicted to be pathogenic
Definite10%-30%Elevatedphenotype consistent with variant
Definite10%-30%Elevatedphenotype consistent with variant
Definite10%-30%Elevated1 known disease causing mutation and 1 mutation of uncertain significance
Definite10%-30%Elevated1 known disease causing mutation and 1 mutation of uncertain significance
Probable10%-30%phenotype consistent with variant
Possible10%-30%