The molecular genetics diagnostic laboratory at UCGS offers customized DNA diagnosis for families with previously identified mutations associated with common or rare genetic conditions.
Mutation analysis is performed by automated DNA sequencing.
This specialized service is especially beneficial for individuals and families who have been identified as carrying a mutation by a research laboratory. UCGS will confirm the mutation in a clinical laboratory setting. Our laboratories are CLIA certified, and CAP accredited , thereby ensuring compliance with quality assurance and quality control guidelines that are not required of research laboratories. After the mutation is confirmed in the proband, or other known carrier, prenatal and carrier testing are available for other at-risk family members. To date, in our laboratories, automated DNA sequencing methods have been utilized to test for mutations associated with rare conditions including Menkes disease, X-linked myotubular myopathy, Duchenne muscular dystrophy and isolated lissencephaly.