WNK1 Gene HSAN2A NGS Genetic Test
Short Name: WNK1 HSAN2A NGS Test
Also known as: HSAN2A Genetic Test, WNK1 Gene Mutation Test, Hereditary Sensory and Autonomic Neuropathy Type 2A Sequencing
WNK1 Gene HSAN2A 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 3-4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic mutations in the WNK1 gene that cause HSAN2A. It is used for confirmatory diagnosis in symptomatic individuals, presymptomatic testing for at-risk family members, and reproductive planning for carriers. Early and accurate diagnosis allows for timely intervention, symptomatic management, and genetic counseling.
- Test Code
- 4123
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting or special preparation is needed. The patient's clinical history and pedigree chart should be provided. Written informed consent is required for genetic testing.
Method: Venipuncture or blood spot on FTA card
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist using standard venipuncture. For FTA card, a few drops of blood are placed on the card and allowed to air dry.
Report Delivery
No special care is required after collection. The sample should be transported to the laboratory at ambient temperature.
Timeline: 3-4 weeks
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic mutations in the WNK1 gene that cause HSAN2A. It is used for confirmatory diagnosis in symptomatic individuals, presymptomatic testing for at-risk family members, and reproductive planning for carriers. Early and accurate diagnosis allows for timely intervention, symptomatic management, and genetic counseling.
How to Prepare
- No fasting is required.
- Use EDTA vacutainer for blood collection.
- For FTA card, apply one drop of blood and air-dry for 30 minutes.
- Do not freeze whole blood before DNA extraction.
- Label the sample clearly with patient ID and date.
- Store whole blood at 2-8°C if delivery is delayed beyond 24 hours.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for HSAN2A is essential for confirming the diagnosis, guiding patient management, and providing accurate recurrence risks for family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Improperly labeled sample
- Sample received more than 72 hours after collection
- Insufficient sample volume
- Sample transported at extreme temperatures
Understanding Your Results
Positive for a pathogenic variant
Confirms the diagnosis of HSAN2A. Autosomal recessive inheritance pattern is expected. Genetic counseling and family screening are strongly recommended.
Negative (no pathogenic variant)
Reduces the likelihood of HSAN2A but does not rule it out. Consider other hereditary neuropathies or alternative etiologies.
Variant of Uncertain Significance (VUS)
Cannot be used for clinical diagnosis. Additional family testing and further research may help clarify the significance.
Consult a neurologist if you or a family member experience symptoms such as numbness, tingling, painless injuries, muscle weakness, or autonomic dysfunction. Genetic counseling is advised for individuals with a family history of HSAN2A or those who receive a positive test result.
Limitations
- ⚠This test analyzes only the WNK1 gene and does not detect mutations in other genes associated with hereditary neuropathies.
- ⚠Large gene rearrangements, deep intronic variants, and dynamic mutations may not be detected by standard NGS.
- ⚠A negative result does not exclude HSAN2A if clinical suspicion is high.
- ⚠Variants of uncertain significance may require additional family segregation analysis for interpretation.
Risks & Considerations
- ●No significant risks are associated with this genetic test.
- ●Blood collection may cause minor pain, bruising, or, rarely, infection.
- ●FTA card collection is minimally invasive and safe.
- ●Potential psychological impact of receiving genetic results.
Interfering Factors
- ●Contamination of blood sample
- ●DNA degradation due to improper transport
- ●Errors in sample labeling
- ●Prior bone marrow transplant (for any DNA-based test)
- ●Rare polymorphic variants affecting sequencing
Frequently Asked Questions
What is the WNK1 Gene HSAN2A NGS Genetic Test?
What is HSAN2A?
How is the test performed?
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What sample types are accepted?
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Is there any risk involved?
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