Biochemical Genetics Training Laboratory Sites

Boston Children’s Hospital Metabolism Laboratory

Location: Boston 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

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.