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In cases of inherited, single-gene defects, Polymerase Chain Reaction (PCR) is the preferred testing method. PCR can be used to screen for beta thalassemia, bloom syndrome, cystic fibrosis, familial dysautonomia, Fanconi’s anemia, fragile-X syndrome, Gaucher’s disease, hemophilia A and B, Huntington’s disease, Marfan’s syndrome, polycystic kidney disease, sickle cell anemia and Tay-Sachs disease, among others.
While the actual PCR technique is performed at the Abington IVF and Genetics, Toll Center for Reproductive Sciences at Abington Memorial Hospital, the analysis is completed by Mark Hughes, M.D., at Wayne State University. Results are typically available within 36 hours, and any affected embryos are excluded from transfer.
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