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Location: Children's Hospital, Boston, MA
Director: Deborah Marsden, MD
Tandem Mass Spectrometry Analysis (Non-Newborn Screening)
Plasma/Urine Amino Acid Determinations
Organic Acid Determinations
Location: Massachusetts General Hospital, Boston, MA
Director: Vivian Shih, PhD; Anand Dighe, MD, PhD
Plasma/Urine/CSF Amino Acid Determinations
Urine metabolic screening tests
Location: Jamaica Plain, MA
Director: Roger Eaton, PhD
Chief Medical Officer/Training Supervisor: Inderneel Sahai, MD
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.