4624
Hemoglobin SC Mutation Analysis
Order Code: 4624
Get Requisition Form
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.
Also Known As
- HbS
- HbSC
- Hemoglobin S
- SC Mutation Analysis
- Sickle Cell
- Sickle Cell Mutation Analysis
Test Type
Genetic Test
Sample Notes
EDTA Whole Blood, EDTA Bone Marrow, DNA, Buccal Swabs, Amniotic Fluid, Cultured Amniocytes, Direct or Cultured CVS
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 whole blood or bone marrow, 3-4 buccal swabs and >=1 ugDNA at >=50 ng/uL
Minimum / Pediatric Volume
Fetal: Call Laboratory; Parental/Patient: 2 ml
Shipping Information
Room Temperature or Refrigerated
CPT Codes
- 81401
Method
PCR and Hybridization Probes
Turnaround Time
3-6 days
New York State Approval
Yes
DEX Z-Code™
No