An Official Website of the Commonwealth of Kentucky
Child and Family Health Improvement Branch
All resources on this page are printable.
Healthcare professionals can learn more about confirmatory testing by reading the American College of Medical Genetics and Genomics' Algorithm for Diagnosis and ACT Sheet, a guide for follow-up after newborn screening.
ACMG ACT SHEETS FOR PROVIDERS
2-Methyl-3-hydroxybutyric aciduria (2M3HBA)2-Methylbutyryl-CoA dehydrogenase deficiency (2MBDH)3-Methylocrotonyl-CoA carboxylase deficiency (3MCC)3-Methylglutaconic aciduria (3MGA)Argininemia (ARG)Argininosuccinic Acidemia (ASA)Biotinidase Deficiency (BIO)Beta-ketothiolase deficiency (BKT)Carnitine Acylcarnitine Translocase Deficiency (CACT)Congenital Adrenal Hyperplasia (CAH)Methylmalonic Acidemia (CBL A-B)Methylmalonic Acidemia (CBL C-D)Critical Congenital Heart Disease (CCHD)Cystic Fibrosis (CF)Congenital Hypothyroidism (CH)Citrullinemia Type I (CIT)Citrullinemia Type II (CIT-II)Carnitine Palmitoyl Transferase deficiency, Type I (CPT-I)Carnitine Palmitoyl Transferase deficiency, Type II (CPT-II)Carnitine uptake deficiency (CUD)Ethylmalonic Encephalopathy (EE)Glutaric acidemia type I (GA-I)Glutaric acidemia type II (GA-II)Galactosemia (GALT)Homocystinuria (HCY)Methylglutaric Aciduria (HMG)Hyperphenylalaninemia (H-PHE)Isobutyryl-CoA Dehydrogenase Deficiency (IBD)Isovaleric Acidemia (IVA)KrabbeLong Chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) Malonic Acidemia (MAL)Medium chain acyl-CoA dehydrogenase deficiency (MCAD)Multiple carboxylase deficiency (MCD)Hypermethioninemia (MET)Mucopolysaccharidosis Type I (MPS-I)Maple Syrup Urine Disease (MSUD)Methylmalonic acidemia mutase deficiency (MUT)Non-ketotoc Hyperlycinemia (NKHG)Ornithine Transcarbamylase deficiency (OTC)Propionic Acidemia (PA)Phenylketonuria (PKU)PompeShort-chain acyl-CoA dehydrogenase deficiency (SCAD)Severe combined immunodeficiency (SCID)Sickle Cell TraitSickle Cell Disease (HG SS)Sickle Cell Hemoglobin C Disease (HG SC)Sickle Cell S Beta Thalassemia (HB S-Th)Sickle Cell Various HemoglobinopathiesTrifunctional Protein Deficiency (TFP)Tyrosinemia type I (TYR-I)Tyrosinemia type II (TYR-II)Tyrosinemia type III (TYR-III)Very long-chain acyl-CoA deficiency (VLCAD)X-Adrenoleukodystrophy (X-ALD)
If you have additional questions, please contact the appropriate area below, depending on your questions:
For Newborn Screening Follow-up – call (502) 564-3756 option 3For copies of screening results - call the state lab (502) 564-4446