EPB42 Gene Spherocytosis type 5 NGS Genetic Test
Also known as: Hereditary Spherocytosis Type 5, EPB42-related Spherocytosis
EPB42 Gene Spherocytosis type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the EPB42 gene to confirm a diagnosis of hereditary spherocytosis type 5, guide treatment decisions, and facilitate genetic counseling for affected individuals and their families.
- Test Code
- 5627
- 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
- NGS (Next Generation Sequencing)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with spherocytosis type 5.
Laboratory Analysis
Your sample is analyzed using NGS (Next Generation Sequencing) in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the EPB42 gene to confirm a diagnosis of hereditary spherocytosis type 5, guide treatment decisions, and facilitate genetic counseling for affected individuals and their families.
How to Prepare
- For blood sample: Use standard venipuncture technique.
- For FTA card: Collect one drop of blood and air-dry.
- Ensure proper labeling and transport at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for spherocytosis type 5 is crucial for accurate diagnosis, family planning, and management of hereditary conditions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
- Improper labeling
Understanding Your Results
Consult a doctor if you experience symptoms such as anemia, jaundice, or fatigue, or if there is a family history of hereditary spherocytosis.
Limitations
- ⚠Test may not detect all possible mutations
- ⚠Results require clinical correlation
Risks & Considerations
- ●Minimal risks associated with blood draw, such as bruising or infection
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
Frequently Asked Questions
What is EPB42 Gene Spherocytosis Type 5?
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How is Spherocytosis Type 5 diagnosed?
What is the EPB42 Gene Spherocytosis Type 5 NGS Genetic Test?
What is the cost of this test in India?
Is home sample collection available?
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What sample type is required?
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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