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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 (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)
Krabbe
Long 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)
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 option 3
For copies of screening results - call the state lab (502) 564-4446

 

 


 

 

 

Contact Information