Biochemical Genetics Training Laboratory Sites

Please click on one of the sites in the list below to view more information.

• Children's Hospital Boston Metabolism Laboratory
  
• Massachusetts General Hospital Neurochemistry/Amino Acid Lab/Core Laboratory
  
• New England Newborn Screening Program State Laboratory
  

Children's Hospital Boston Metabolism Laboratory

Location: Children's Hospital, Boston, MA
Director: Deborah Marsden, MD
Test Offerings:

Tandem Mass Spectrometry Analysis (Non-Newborn Screening)

Plasma/Urine Amino Acid Determinations

Organic Acid Determinations

Massachusetts General Hospital Neurochemistry/Amino Acid Lab/Core Laboratory

Location: Massachusetts General Hospital, Boston, MA
Director: Vivian Shih, PhD; Anand Dighe, MD, PhD
Test Offerings:

Plasma/Urine/CSF Amino Acid Determinations

MTHFR/MCAD mutations

Thiosulfate

Sugars/succinylpurines

Urine metabolic screening tests

Enzyme assay

New England Newborn Screening Program State Laboratory

Location: Jamaica Plain, MA

Website: http://www.umassmed.edu/NBS/index.aspx

Director: Roger Eaton, PhD

Chief Medical Officer/Training Supervisor: Inderneel Sahai, MD

Test Offerings:

Screening for amino acids disorders, urine cycle disorders, organic acid and fatty acid oxidation disorders by tandem mass spectrometry technology,
galactosemia by fluorescent assay, biotinidase deficiency by fluorescent assay, Hemoglobinopathes including sickle cell disease by electrophoresis,
cystic fibrosis by DNA mutation, Congenital adrenal hyperplasia (CAH) by immunofluorescence assay, Congenital hypothyroidism by immunofluorescence assay.