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Newborn Screening Brochure

English version

​Spanish Version​

Primary Care Provider Resources

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

Disorders Currently Screened For: 

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 (C​BL 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 upt​ake deficiency (CUD)
Ethylmalonic Encephalopathy (EE)
Glutaric acidemia type I (GA-I)
Glutaric acidemia type II (GA-II)
Galactosemia (GALT)
Homocystinuria (HCY)
Methylglutaric Acidur​ia (HMG)

Hyperphenylalaninemia (H-PHE)
Isobutyryl-CoA Dehydrogenase Deficiency (IBD)
Isovaleric Acidemia (IVA)
Krabbe
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)​

dehydrogenase defic​iency (LCHAD).pdf
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 Transcarbamylas​e deficiency (OTC)​
Propionic Acidemia (PA)
Phenylketonuria (PKU)
Pompe
Short-chain acyl-CoA dehydrogenase deficiency (SCAD)​
Severe combined immunodeficiency (SCID)
Sickle Cell Trait
Sickle Cell Disease (HG SS)
Sickle Cell Hemoglobin C Disease (HG SC)
Sickle Cell S Beta Thalassemia (HB S-Th)
Sickle Cell Various Hemoglobinopathies
Trifunctional 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)

Questions

If you have additional questions, please contact the appropriate area below, depending on your questions:

For Newborn Screening Follow-up – call (502) 564-3756
For copies of screening results - call the state lab (502) 564-4446​