Hemoglobin SC Mutation Analysis

Sickle Cell Disease is caused by mutations in the b-globin gene (HBB) and are defined by the presence of hemoglobin S (HbS). Molecular prenatal testing can be offered for pregnancies at increased risk.

Genetic Test

EDTA Whole Blood, EDTA Bone Marrow, DNA, Buccal Swabs, Amniotic Fluid, Cultured Amniocytes, Direct or Cultured CVS

Fetal: 7-15 ml Amniotic Fluid or 5-10 mg CVS, backup culture of Amniocytes or CVS is highly recommended; Two T25 flasks Cultured Amniocytes or CVS (2x10^6 minimum); Parental/Patient: 3-5 ml whole blood or bone marrow, 3-4 buccal swabs and >=1 ugDNA at >=50 ng/uL

Fetal: Call Laboratory; Parental/Patient: 2 ml

PCR and Hybridization Probes

3-6 days

Yes

No