sickle cell disease genotyping

Indications

• sickle cell disease (compound heterozygote)
  • variability in signs/symptoms
  • benefit of early therapeutic intervention

Clinical significance

• hemoglobin electrophoresis is test of choice
• DNA test useful in discriminating compound heterozygotes

Specimen

• whole blood (ACD or EDTA)
• amniocytes
• chorionic villi
• store whole blood at 4 degrees C
• store at -20 degrees C or below if nucleic acids cannot be extracted immediately

More general terms

• hemoglobin genotyping

Additional terms

• sickle cell (hemoglobin SS) disease