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.
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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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