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Hemoglobin SC Mutation Analysis

Order Code: 4624

Test Information

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.

Sample Requirements

Fetal: Amniotic Fluid, CVS, Cultured Amniocytes or Cultured CVS; Parental/Patient: EDTA Whole Blood (lavender top)

Shipping Information

Room Temperature

Requested Volume

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

Minimum/Pediatric Volume

Fetal: Call Laboratory; Parental/Patient: 2 ml

CPT Codes

81401

Method

PCR and Hybridization Probes

Turnaround Time

3-6 days

New York State Approval

Approved

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