DHMH Laboratories Administration Newborn and Childhood Screening Division:
This Division offers hereditary disorders testing to every baby born in Maryland. Testing is offered for:
- PKU (phenylketonuria)
- MSUD (maple syrup urine disease)
- Homocystinuria
- Tyrosinemia
- Argininemia
- Citrulinemia
- Arginosuccinic Aciduria
- Galactosemia
- Biotinidase Deficiency
- Congenital Hypothyroidism
- Congenital Adrenal Hyperplasia
- Sickle cell anemia and other Hemoglobinopathies
- 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG CoA Lyase Deficiency)
- Glutaric Acidemia Type I (GA I)
- Isobutyryl-CoA Dehydrogenase Deficiency
- Isovaleric Acidemia (IVA)
- 2-Methylbutyryl-CoA Dehydrogenase Deficiency
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC Deficiency)
- 3-Methylglutaconyl-CoA Hydratase Deficiency
- Methylmalonic Acidemia (MMA)
- Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (3-Ketothiolase Deficiency)
- Propionic Acidemia (PA or PPA)
- Multiple Carboxylase Deficiency
- Carnitine/Acylcarnitine Translocase Deficiency (Translocase Deficiency)
- Long Chain 3-Hydroxyacyl-CoA Dehyhrogenase Deficiency (LCHAD Deficiency)
- Medium Chain Acyl Co-A Dehyhrogenase Deficiency (MCAD Deficiency)
- Multiple Acyl Co-A Dehydrogenase Deficiency (MADD Deficiency or Glutaric Acidemia Type II or GA II)
- Carnitine Palmitoyl Trasferase II Deficiency (CPT II Deficiency)
- Short Chain Acyl-Co-A Dehydrogenase Deficiency (SCAD Deficiency)
- Short Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (SCHAD Deficiency)
- Very Long Chain Acyl-CoA Dehyhrogenase Deficiency (VLCAD Deficiency)
- Cystic fibrosis
- Division Chief:
- Administrative Assistant:
- Laboratory Scientist Manager:
- Fax:
Newborn Screening Follow Up Unit
- Medical Director of Newborn Screening Follow-up:
- Genetic Counselor:
- Nurse Counselor:
Tandem Mass Spectrometry: 410-767-6099
- Laboratory Scientist Supervisor:
Endocrinology : 410-767-6170
- Laboratory Scientist Supervisor:
Hemoglobinopathy/ Biochemical
- Laboratory Scientist Supervisor:
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