Newborn Screening Advisory Committee

Regulatory
July 8, 2022
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Newborn Screening Advisory Committee advises the Department of State Health Services regarding strategic planning, policy, rules, and services related to newborn screening.   1. Welcome, introductions, and logistical announcements . The meeting was convened by Dr. Speer. 2. Consideration of April 29, 2022, draft meeting minutes. The minutes were approved as written. 3. Whole genomic sequencing in newborn screening. Newborn Screening (NBS) Molecular Tests in the United States Primary screen – Severe Combined Immunodeficiency (SCID), Spinal Muscular Atrophy (SMA) Second- or Third-tier screen Hemoglobinopathies Galactosemia Cystic Fibrosis Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD) and other Fatty Acid Oxidation disorders (FAOs) Krabbe; Pompe, Mucopolysaccharidosis type I (MPS I), MPS II, Guanidinoacetate Methyltransferase Deficiency (GAMT) Adrenoleukodystrophy SMA (SMN2 copy number) Maple syrup urine disease

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