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Metabolic Disorders Carnitine Uptake Deficiency (CUD) Citrullinemia (CIT) and Argininosuccinic Aciduria (ASA) Cobalamin Disorders (Cbl A,B) and Methylmalonic Acidemia (MUT) Glutaric Aciduria Type 1 (GAI) Galactosemia (GALT) Guanidinoacetate Methyltranferase Deficiency (GAMT) Homocystinuria (Hcy) Isovaleric Acidemia (IVA) Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) Maple Syrup Urine Disease (MSUD) Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) Phenylketonuria (PKU) Propionic Acidemia (PROP) Tyrosinemia I (Tyr I) Very-Long Chain AcylCoA Dehydrogenase Deficiency (VLCAD) Endocrine Disorders Congenital Adrenal Hyperplasia (CAH) Congenital Hypothyroidism (CH) Blood Disorders & Hemoglobin Traits (Carriers) Hemoglobinopathies: Sickle Cell Disease Hemoglobin Traits The following are family information sheets: Sickle Cell Trait Hemoglobin C Trait Hemoglobin D Trait Hemoglobin D-Beta Thalassemia Homozygous Hemoglobin D Hemoglobin E Trait Hemoglobin Variant Trait Cystic Fibrosis Cystic Fibrosis CF Screening Algorithm CFTR Variant PanelThe following are family information sheets: Sweat Test High IRT and Two Mutations High IRT and One Mutation High IRT and No Mutations Guideline & FAQ Newborn Screening Guideline Practice Change in Molecular Testing for Cystic Fibrosis (CF) Effective October 2016, the second tier CF mutation panel is being performed by a new method (MiSeqDx). Read the memo from the C&W Division of Laboratory Genetics & Genomics. The panel has been enhanced to include 130 CF causing variants. This will apply to all BC and Yukon newborns with an elevated IRT on the first tier assay. For reference, this list of CFTR variants shows the historical mutation panel that was used by the BC Newborn Screening Lab from November 2009 to September 2016, with the comparable nomenclature for the new mutation panel effective October 2016. Frequently Asked Questions Forms & Resources To download or order Forms & Resources please visit: Forms & Resources Blo... Read more↗
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