SPTB Gene Anemia, neonatal hemolytic, fatal and near-fatal NGS Genetic Test
Short Name: SPTB Gene Anemia NGS Test
Also known as: SPTB Gene Mutation Test, Neonatal Hemolytic Anemia Genetic Test, Spectrin Beta Gene Test
SPTB Gene Anemia, neonatal hemolytic, fatal and near-fatal NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose mutations in the SPTB gene that cause neonatal hemolytic anemia, enabling early treatment, family screening, and genetic counseling to prevent fatal outcomes.
- Test Code
- 5571
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Obtain clinical history and conduct genetic counseling to draw a pedigree chart of affected family members.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Collect blood sample via venipuncture or use FTA card for one-drop blood, ensuring proper labeling and handling.
Report Delivery
Transport sample at ambient room temperature to the lab; avoid freezing or excessive heat.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose mutations in the SPTB gene that cause neonatal hemolytic anemia, enabling early treatment, family screening, and genetic counseling to prevent fatal outcomes.
How to Prepare
- Ensure patient identification is accurate
- Use sterile collection tubes
- Label samples with patient details and date
- Follow standard phlebotomy procedures
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for SPTB gene mutations is vital in neonates with unexplained hemolytic anemia to guide timely intervention and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect sample type
- Missing patient information
Understanding Your Results
No pathogenic variants detected
Low likelihood of SPTB gene-related anemia; consider other causes.
Pathogenic variant detected
Confirms diagnosis; recommend treatment and genetic counseling.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed; monitor clinically.
Consult a hematologist or geneticist if symptoms persist, worsen, or if family history suggests hereditary anemia.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions)
- ⚠Requires genetic counseling for interpretation
- ⚠Results may have variants of uncertain significance (VUS)
- ⚠Not a substitute for clinical evaluation
Risks & Considerations
- ●Minimal risk from blood draw (bruising, infection)
- ●Psychological impact of genetic results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood samples
- ●Incorrect sample storage
Compare With Similar Tests
| Test | SPTB Gene Anemia, neonatal hemolytic, fatal and near-fatal NGS Genetic Test | Traditional Sanger Sequencing | Complete Blood Count (CBC) | Peripheral Smear | Reticulocyte Count |
|---|---|---|---|---|---|
| Comparison | SPTB Gene Anemia, neonatal hemolytic, fatal and near-fatal NGS Genetic Test |
Frequently Asked Questions
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