sickle cell disease genotyping

Indications: - sickle cell disease (compound heterozygote) a) variability in signs/symptoms b) benefit of early therapeutic intervention Specimen: 1) whole blood (ACD or EDTA) 2) amniocytes 3) chorionic villi 4) store whole blood at 4 degrees C 5) store at -20 degrees C or below if nucleic acids cannot be extracted immediately Clinical significance: - hemoglobin electrophoresis is test of choice - DNA test useful in discriminating compound heterozygotes

References

Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed., W.B. Saunders, 1995