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.
Additional Test Information
Fetal: Amniotic Fluid, CVS, Cultured Amniocytes or Cultured CVS; Parental/Patient: EDTA Whole Blood (lavender top)
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
Fetal: Call Laboratory; Parental/Patient: 2 ml
PCR and Hybridization Probes