00:21:21 Erica Wright: Do you have 2TT via LC MS/MS? 00:22:05 APHL | Ruthanne Sheller: Thank you for joining us! The first question that was asked is: How are you screening for ALD? 00:22:19 APHL: Reacted to "Thank you for joinin..." with 👍🏽 00:25:57 Elizabeth Bair: South Carolina isn't screening for ALD yet. 00:29:14 Joseph Orsini: Alone 00:29:35 Tate Kappell: Alone 00:30:56 Nicolas Szabo-Fresnais: In Utah, C26:0-LPC with HPLC-MS/MS negative mode run in multiplex with Pompe disease and MPS-I. 00:31:08 Michelle Mills-KS NBS Lab Mgr: Another reason why we run it separately is because it tends to make the instrument dirtier. 00:31:32 APHL: Thank you for sharing your method, Nicolas! 00:31:53 Nicolas Szabo-Fresnais: Replying to "Thank you for sharin..." You are welcome. 00:32:12 Ashley Comer: That perspective is helpful and reasoning makes sense, Joe. 00:32:29 Erica Wright: Joe, do you use a floating cut-off on first tier? 00:32:45 APHL: Reacted to "Another reason why w..." with 👍🏽 00:32:56 Bijo Varughese: In Iowa- C26:0-LPC with HPLC-MS/MS negative ion mode without Multiplexing (Still in Pilot) 00:34:13 Michelle Mills-KS NBS Lab Mgr: Revvity service technicians says they have moved Q-sights to quarterly PM's due to X-ALD. 00:36:03 Elizabeth Bair: For those states using NeoBase 2 for C26-LPC, what are your 1st tier cutoffs? 00:37:29 Joseph Orsini: Reacted to "Another reason why w..." with 👍 00:38:59 Erica Wright: Hello Elizabeth, our initial C26-PC on Neobase 2 was 0.90 but we are lowering it to 0.80. For older children, we do have a lower cut-off. 00:39:03 Tate Kappell: IL also has cutoffs similar to KS. Borderline is 0.18 and positive cutoff is 0.28. 00:39:13 APHL: Reacted to "IL also has cutoffs ..." with 👍🏽 00:39:33 Elizabeth Bair: Reacted to "Hello Elizabeth, our..." with 👍 00:40:30 Tracy Klug: MO cutoffs for our LDT are: 0.16 borderline and 0.20 high risk/referral 00:42:46 Nicolas Szabo-Fresnais: Utah: the mean/median for first card Similar to NYS 00:43:18 Jenna Soukup: MN is using same method (negative ion mode HPLC MS/MS not currently multiplexed) and same fixed cutoffs as MO 00:44:54 Jenna Soukup: Correction, our borderline is 0.16 and refer is 0.30 for MN 00:45:22 Joseph Orsini: No extra punch, which is great 00:45:31 Michelle Mills-KS NBS Lab Mgr: Reacted to "No extra punch, whic..." with 👍 00:46:15 Konstantinos Petritis: Nicola, when you add MPS II, are you going to have to do an extra punch, or are you going to try to do it from the same punch? 00:46:17 Joseph Orsini: We treat boy/girl samples same 00:46:37 Kenneth Coursey: IA is also treating boy/girl samples the same. 00:46:50 Tate Kappell: Same for Illinois. 00:47:01 Michelle Mills-KS NBS Lab Mgr: Reacted to "We treat boy/girl sa..." with 👍 00:47:08 Tracy Klug: Same for MO 00:47:12 Michelle Mills-KS NBS Lab Mgr: Same for KS 00:47:14 Nicolas Szabo-Fresnais: Replying to "Nicola, when you add..." We are going to try same punch but may not be feasible because of the cesium chloride. 00:47:20 Carolina Montgomery: Same for TX. 00:48:21 Kerri-Lynn Lockwood: In MI, our F/U clinicians do not routinely order molecular confirmatory testing on females. They do provide a genetics evaluation and genetic counseling. 00:49:00 Michelle Mills-KS NBS Lab Mgr: In KS, our Case Management recommends genetic counseling for the family. 00:51:04 Stephanie Rhodes: In Alabama our genetics center for any condition will help facilitate family testing. This year we started in March and 3 cases have referred for further studies. Our 2nd Tier is sent to Revvity for biochemical, then if abnormal referred to our genetic clinic for further testing. 00:51:05 Jenna Soukup: MN has more 2:1 for males 00:51:24 Michelle Mills-KS NBS Lab Mgr: Reacted to "In Alabama our genet..." with 👍 01:01:51 Ashley Comer: Nice example of ethical dilemma 01:01:58 Nicolas Szabo-Fresnais: Dr Kemp shared a variant database?👇 https://adrenoleukodystrophy.info/ If anyone using this database could share their thoughts, that would be great. 01:02:01 Joseph Orsini: Reacted to "Dr Kemp shared a var..." with 👍 01:02:39 Joan Ehrhardt: Using in what way? 01:02:41 Joseph Orsini: I am a big supporter of the ABCD1 variant database 01:02:54 Joseph Orsini: Does anyone want me to talk about it? 01:03:03 Jelili Ojodu: Reacted to "Does anyone want me ..." with 👍🏾 01:03:09 Nicolas Szabo-Fresnais: Reacted to "Does anyone want me ..." with 👍 01:03:09 Joan Ehrhardt: Reacted to "Does anyone want me ..." with 👍🏾 01:03:10 Tracy Klug: Reacted to "Does anyone want me ..." with 👍 01:03:11 Ashley Comer: Reacted to "Does anyone want me ..." with 👍 01:03:12 Kenneth Coursey: Reacted to "Does anyone want me ..." with 👍 01:03:34 Joseph Orsini: We are doing the best we can to get follow-up on these kids 01:03:40 Nicolas Szabo-Fresnais: Reacted to "I am a big supporter..." with 👍 01:03:50 APHL: Yes, Joe. Please discuss the ABCD1 variant database. 01:06:33 APHL: Here are some additional resources for ALD: https://pubmed.ncbi.nlm.nih.gov/31074578/ 01:07:09 APHL: https://vimeo.com/manage/videos/709244383 01:07:41 APHL: https://www.acmg.net/PDFLibrary/X-ALD-ACT-Sheet.pdf 01:07:43 APHL | Ruthanne Sheller: Reacted to "https://vimeo.com/ma..." with ❤️ 01:08:15 APHL: https://www.acmg.net/PDFLibrary/X-ALD-Algorithm.pdf 01:09:49 Joseph Orsini: We mostly try to find out if have any adrenal or cerebral symptoms 01:10:00 Joseph Orsini: Or if unaffected so far 01:10:08 Nicolas Szabo-Fresnais: Thank you Joe for commenting. 01:10:15 Michelle Mills-KS NBS Lab Mgr: KS is hiring for long term follow up as we speak. 01:10:23 APHL: Reacted to "KS is hiring for lon..." with 👍🏽 01:10:27 Ashley Comer: Reacted to "KS is hiring for lon..." with ❤️ 01:10:32 Erica Wright: That's great Michelle! 01:10:35 APHL: Reacted to "We mostly try to fin..." with 👍🏽 01:10:39 Joseph Orsini: Reacted to "KS is hiring for lon..." with 👍 01:10:47 Joseph Orsini: Reacted to "Thank you Joe for co..." with 👍 01:10:48 Nicolas Szabo-Fresnais: Reacted to "We mostly try to fin..." with 👍 01:11:06 APHL | Ruthanne Sheller: Reacted to "KS is hiring for lon..." with ❤️ 01:11:27 Kerri-Lynn Lockwood: MI is requesting annual X-ALD F/U on diagnosed boys - limited to dx updates, new symptoms, and tx initiation. 01:11:28 Joan Ehrhardt: LTFU: IL is similar to NY, and is child still in care. 01:11:56 Michelle Mills-KS NBS Lab Mgr: Reacted to "That's great Michell..." with 🎉 01:13:07 Tracey Bishop: Here is our F/U paper from California 01:13:52 Kimberly Noble Piper: Reacted to "KS is hiring for lon..." with 👍🏻 01:13:55 Ashley Comer: https://pubmed.ncbi.nlm.nih.gov/33920672/ 01:13:58 Tracey Bishop: chrome-extension://efaidnbmnnnibpcajpcglclefindmkaj/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8167547/pdf/IJNS-07-00022.pdf 01:14:05 APHL: Reacted to "chrome-extension://e..." with 👍🏽 01:14:15 APHL | Ruthanne Sheller: Reacted to "chrome-extension://e..." with ❤️ 01:14:19 Joseph Orsini: Reacted to "chrome-extension://e..." with 👍 01:14:20 APHL | Ruthanne Sheller: Reacted to "https://pubmed.ncbi...." with ❤️ 01:14:22 Ashley Comer: Reacted to "chrome-extension://e..." with 👍 01:16:12 Ashley Comer: Thank you, everyone, for you participation today. This was great to hear the algorithms and more importantly some of the decisions behind them! So much knowledge in this group! 01:16:26 APHL | Ruthanne Sheller: Reacted to "Thank you, everyone,..." with ❤️ 01:16:38 Joan Ehrhardt: Reacted to "Thank you, everyone,..." with ❤️ 01:16:49 Michelle Mills-KS NBS Lab Mgr: Reacted to "Thank you, everyone,..." with ❤️ 01:17:02 Joan Ehrhardt: Thank you! 01:17:05 Michelle Mills-KS NBS Lab Mgr: Thank you, everyone! 01:17:14 Joseph Orsini: Thanks! 01:17:17 Chris Nixon: Thanks everyone! 01:17:25 Bijo Varughese: Thank You Everyone 01:17:48 Jelili Ojodu: Reacted to "Thank You Everyone" with ‼️ 01:17:52 Stephanie Rhodes: Thank you for sharing all your information. 01:17:53 Carolina Montgomery: Thank you!