SPTB Gene Spherocytosis type 2 NGS Genetic Test
Short Name: SPTB Gene Spherocytosis Test
Also known as: Beta-spectrin gene test, SPTB mutation analysis, Hereditary spherocytosis genetic test
SPTB Gene Spherocytosis type 2 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 from sample receipt. 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
The purpose of this test is to detect mutations in the SPTB gene to confirm a diagnosis of Spherocytosis type 2, assess genetic risk, guide treatment strategies, and support genetic counseling for affected individuals and their families.
- Test Code
- 5624
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counseling is advised to discuss test implications and obtain informed consent. Provide clinical history and family pedigree.
Method: Venipuncture or finger-prick
Laboratory Analysis
A trained phlebotomist will collect a blood sample via venipuncture or use an FTA card for a drop of blood.
Report Delivery
The sample will be labeled, stored at ambient temperature, and transported to the laboratory for NGS analysis.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the SPTB gene to confirm a diagnosis of Spherocytosis type 2, assess genetic risk, guide treatment strategies, and support genetic counseling for affected individuals and their families.
How to Prepare
- Avoid hemolysis during blood draw
- Ensure proper labeling of sample tubes
- Use sterile collection techniques
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Spherocytosis type 2 is crucial for family planning and early management, especially in cases with a family history of hemolytic anemias."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect sample type or container
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Spherocytosis type 2; recommend clinical management and family screening.
Negative for pathogenic variant
No mutation detected in SPTB gene; consider other causes of hemolytic anemia and clinical correlation.
Variant of uncertain significance (VUS)
Further testing and genetic counseling advised to determine clinical relevance.
Consult a doctor if you experience symptoms of anemia, jaundice, or have a family history of spherocytosis. For positive results, seek guidance from a hematologist or geneticist for management and family planning.
Limitations
- ⚠May not detect all possible mutations in the SPTB gene
- ⚠Results require correlation with clinical findings and family history
- ⚠Genetic counseling is recommended for interpretation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Potential psychological impact of genetic results; counseling available
Interfering Factors
- ●Sample contamination
- ●Improper sample storage or handling
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | SPTB Gene Spherocytosis type 2 NGS Genetic Test | Complete Blood Count (CBC) | Peripheral Blood Smear | Osmotic Fragility Test | Eosin-5-Maleimide (EMA) Binding Test |
|---|---|---|---|---|---|
| Comparison | SPTB Gene Spherocytosis type 2 NGS Genetic Test |
Frequently Asked Questions
What is Spherocytosis type 2?
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