DNA Diagnostic Laboratory

General Information

The DNA Diagnostic Laboratory provides molecular diagnosis for a number of inherited diseases, including cancer predisposition syndromes, inborn errors of metabolism, muscular dystrophies, and fragile-X syndrome. New techniques are developed and applied as new genes are discovered and become important for clinical diagnosis.

Diseases and disorders diagnosed through this laboratory include:

  • BRCA1 and BRCA2 (Ashkenazi mutations)
  • Gorlin syndrome (basal cell nevus syndrome)
  • Fragile-X syndrome
  • Hemophilia A
  • Multiple endocrine neoplasia type 1 and 2
  • Medium change acyl-dehydrogenase deficiency
  • Duchenne muscular dystrophy
  • Hereditary melanoma
  • Ornithine transcarbamylase deficiency

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