Section 270.006 - Diseases and Disorders Included in Newborn Blood Screening(A)Mandated Newborn Blood Screening. The following diseases and disorders shall be included in mandated newborn screening:(1)Inborn Errors of Metabolism. (a)Amino Acid Disorders:1. Maple Syrup Urine Disease (MSUD);3. Phenylketonuria (PKU);4. Tyrosinemia, Type I (TYR I).(b)Fatty Acid Oxidation Disorders: 1. Carnitine-Acylcamitine Translocase Deficiency (CACT);2. Carnitine Uptake Defect (CUD);3. Long-chain L-3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD);4. Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD);5. Very long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD).(c)Organic Acidemias:1. [BETA]-Ketothiolase Deficiency (BKT);2. Glutaric Acidemia type I (GAI);3. 3-Hydroxy-3-Methylglutaric Aciduria (HMG);4. Isovaleric Acidemia (IVA);5. Methylmalonic Acidemia: methylmalonyl Co A mutase deficiency (MUT);6. Methylmalonic Acidemia: cobalamin A, B (Cbl A,B);7. Methylmalonic Acidemia: cobalamin C,D (Cbl C,D);8. Propionic Acidemia (PROP).(d)Urea Cycle Disorders: 1. Argininemia (ARG) aka Arginase Deficiency;2. Argininosuccinic Aciduria (ASA) aka Argininosuccinate Lyase Deficiency;3. Carbamylphosphate Synthetase Deficiency (CPS);4. CitruUinemia, Type I (CIT) aka Arginino succinate Synthetase Deficiency;5. Ornithine Transcarbamylase Deficiency (OTC).(2)Other Miscellaneous Disorders of Involving Metabolic Pathways:(a) Biotinidase Deficiency (BIOT);(b) Galactosemia, Classical (GALT).(c)Endocrinopathies:1. Congenital Adrenal Hyperplasia (CAH);2. Congenital hypothyroidism (CH).(d)Infectious Diseases: Congenital Toxoplasmosis (TOXO).(e)Hemoglobin Disorders:1. Sickle cell anemia (Hb SS);2. Hb S/C disease (Hb SC);3. Hb S/ -thalassemia (Hb S/ Th).(f)Other Genetic Disorders: 2. Severe Combined Immunodeficiency (SCID).(B)Pilot Studies. The Newborn Blood Screening Program shall identify and maintain a list of diseases and disorders that shall be included in the optional newborn blood screening as pilot studies. A current list of diseases and conditions available for optional screening shall be included in the New England Newborn Screening brochure provided to parents and guardians and shall be maintained on the web page for the New England Newborn Screening Program.(C)By-product Conditions. Due to the technology used for some screening tests, and/or the physiology associated with the disorders being tested for, some conditions not listed in 105 CMR 270.006(A) or offered as pilot studies pursuant to 105 CMR 270.006(B) may be identified during the screening process. These by-product conditions do not currently meet the criteria for mandated screening or pilot studies. These by-product conditions are listed in the New England Newborn Screening brochure provided to parents and guardians and are maintained on the web page for the New England Newborn Screening Program.Amended by Mass Register Issue 1324, eff. 10/21/2016.