Pcr/southern Blot For Sickle Cell Disease

From Anvita Health Wiki

Contents 1 Indications 2 Clinical-significance 3 Specimen 4 More General Terms 5 Additional Terms 6 References

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

• molecular diagnostic test

Additional Terms

• sickle cell (hemoglobin SS) disease

References

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

PCR/southern blot for sickle cell disease