RUSP 34 Core Conditions for Newborn Genetic Screening

Table 8.1 RUSP 34 Core Conditions for Newborn Genetic Screeninga ACMG" Code Condition Organic Acid Disorders CblA, CblB Methylmalonic acidemia (cobalamin disorders) Hydroxv' 3- methvlslutanc d IVA WM lsovaleric acidemia W ,_ MCD Holocarboxylase synthase deficiency MUT Methylrnalonic acidemia (methylmalonyi-CoA mutase) 3-MCC 3-Methylcrotonyl-COA carboxylase deficiency Fatty Acid Disorders cuo ,, Farmime uptake defect LCHAD Long- -chain L—3- hydroxylacyl- CoA dehydroge— nase deficiency MCAD Medium-chain acyl-CoA dehydrogenase W deficiency % TFP Trifunctional protein deficiency VLCAD Very long-chain acyl- CoA dehydrogenase deFCIency A Ammo Acid Disorders ASA 33,3,A'Q'mmsuccm'c 300‘“ CIT Citrullinemia type 1 3, MSUD Maple sugar urine disease PKU Phenylketonuria Endocrine Disorders CAH Congenital adrenal hyperplasia CH Primary congenital hyperthyroidism Hemoglobin Disorders 3 Hb SC Hemoglobin SC disease _,,,Hb SS Hemoglobm SS disease (sickle cell disease) ,_ Hb SBTh A 3’ Hemoglobm S beta-thalassemia disease Other Disorders BiOT BiotInIdase defiCIency ,, ,, y _, Wily/WCCHD AWCfltlcal congemta' hea daisease Ci; m 3‘ W Cystic fibrosis W GALT , _ Galactosemia _ GSD ll Glycogen storage disease type ll MucopolysaccharIdOSIs type 1 , L SClD Severe combined ImmunodefICIency X-ALD X-Iinked adrenoleukodystrophy "Ae of November 2016. 5 American College of Medical Genetics and Genomics.