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| Description: 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 MucopolysaccharIdOS Is type 1 , L SClD Severe combined ImmunodefICIency X-ALD X-Iinked adrenoleukodystroph y "Ae of November 2016. 5 American College of Medical Genetics and Genomics.
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