RUSP 25 Secondary Conditions for Newborn Genetic Screening

Table 8.2 RUSP 25 Secondary Conditions for Newborn Genetic Screeninga ACMG" Code Condition Organic Acid Disorder Cbl C, D Methylmalonic acidemia with homocystinuria IBG lsobutyrylglycinuria MAL VVVVVVVVVVVVVVVVVVVVVVVVVVVVV VVVVVVVVVVVVVVV M SiSEESEiEGiS VVVVVVVVVVVVVVVVVVVVVVVVVVVVV VVVVVVVVVVVVVVVVVVVVVVVVVVVVV VVVVVVVVVVVVVVVV ' vvvvvvvvvvvvvv ' 2MBG 2-Methylbutyrylglycinuria 3MGA 3—Methylglutaconic aciduria 2M3HBA 2-Methyl-3-hydroxybutyric aciduria Fatty Acid Disorders CACT Carnitine acylcarnitine translocase deficiency CPT IA Carnitine palmitoyltransferase type 1 a wwwwwwwwwwwwwwwwwwwwwwwwwwwww wwwwwwwwwwwwwwwwwwwwwwwwwwww deicency ccccccccccccccccccccccccccccc ccccccccccccccccccccccccccccc , wwwwwwwwwwwwwwwwwwwwwwwwwwwww wwwwwwww CPT Ii Carnitine palmitoyltransferase type Ii deficiency DE RED 2,4-Dienoyl-CoA reductase deficiency 6A2” GIutancaad em'a type" MCAT Medium-chain ketoacyl-CoA thiolase deficiency M/SCHAD Medium/short-chain L-3-hydroxylacyl-CoA reductase deficiency "EEK—SWWWW”WEEZEEQECEIEXWJMEJaE—J mmmmm deficiency Amino Acid Disorders ARG Argininemia BIOPT (BS) Biopterin defect in cofactor biosynthesis WETSEHEEE} WWWWW 6i ELIE?“a:EQEEWZSQMQEEESEW cw n " Citrullmemiatypeil W " H—PHE Benign hyperphenylalaninemia MET Hypermethioninemia Tiéwii WWWWWWWWWWWWW f fiEQXeEEQLZH WWWWWWWWWWWWWWWWWWWWWWWW TYR m Tyrosinemia type In Hemoglobin Disorders Var Hb Various hemoglobinopathies Other Disorders GALE Galactoepimerase deficiency GALK Galactokinase deficiency W T-cell related lymphocyte deficiencies a As of November 2016. ”American College of Medical Genetics and Genomics.