RETREG1 Gene HSAN2B NGS Genetic Test
Short Name: HSAN2B NGS Test
Also known as: HSAN2B genetic test, RETREG1 gene mutation test, Hereditary sensory neuropathy type 2B NGS test
RETREG1 Gene HSAN2B 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 Results are generally available within 3 to 4 weeks from sample receipt. The report includes the clinical interpretation along with FASTQ and VCF files.. 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 the RETREG1 Gene HSAN2B NGS Genetic Test is to detect pathogenic or likely pathogenic variants in the RETREG1 gene associated with HSAN2B. The test is used to confirm a suspected clinical diagnosis, identify affected individuals in families with a history of hereditary sensory neuropathy, and guide genetic counselling.
- Test Code
- 4129
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are generally available within 3 to 4 weeks from sample receipt. The report includes the clinical interpretation along with FASTQ and VCF files.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session to draw a family pedigree of members affected with RETREG1-related HSAN2B is recommended. Please provide the laboratory with relevant clinical history and any previous neurological investigations.
Method: Peripheral blood venipuncture or dried blood spot on FTA card
Laboratory Analysis
A qualified phlebotomist will collect a small blood sample. If an FTA card is used, one drop of blood is applied to the designated paper card. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. The sample will be transported to the laboratory under the recommended storage conditions. The clinical report and raw data files will be shared after the testing and analysis are completed.
Timeline: Results are generally available within 3 to 4 weeks from sample receipt. The report includes the clinical interpretation along with FASTQ and VCF files.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the RETREG1 Gene HSAN2B NGS Genetic Test is to detect pathogenic or likely pathogenic variants in the RETREG1 gene associated with HSAN2B. The test is used to confirm a suspected clinical diagnosis, identify affected individuals in families with a history of hereditary sensory neuropathy, and guide genetic counselling.
How to Prepare
- No fasting is required before sample collection.
- Use the sample collection kit provided by DNA Labs India.
- For FTA card collection, follow the instruction card and allow the blood spot to dry before packing.
- Ensure the sample is labelled with the patient's name and unique identification number.
- Provide the completed clinical history and genetic counselling referral form with the sample.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Molecular confirmation of HSAN2B is valuable for affected individuals and family members, especially for carrier testing and reproductive counselling. A clinical genetic test report should be interpreted alongside the family history and neurological examination."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample due to improper mixing with anticoagulant
- Hemolysed or visibly contaminated sample
- Insufficient sample quantity
- Unlabelled or mislabelled sample
- Sample received beyond the recommended stability period
Understanding Your Results
Pathogenic variant detected
Confirms the molecular diagnosis of RETREG1-related HSAN2B in the appropriate clinical context.
Likely pathogenic variant detected
Indicates a high likelihood of disease association; additional clinical or family evidence may be needed.
No pathogenic variant detected
Reduces the likelihood of RETREG1-related HSAN2B but does not rule out the clinical diagnosis.
Variant of uncertain significance (VUS)
Requires further evaluation, family segregation studies and correlation with clinical findings.
If you or a family member are experiencing symptoms such as loss of sensation in the feet, non-healing ulcers, foot deformities or difficulty walking, consult a doctor or genetic specialist. This test should be ordered only after a proper clinical evaluation and genetic counselling.
Limitations
- ⚠This NGS test is targeted to the RETREG1 gene and does not analyse other genes causing similar hereditary neuropathies.
- ⚠Large structural rearrangements or copy number changes involving RETREG1 may not be detected by standard NGS analysis.
- ⚠A negative result does not completely exclude the clinical diagnosis, especially in the presence of strong clinical and family history.
- ⚠Variant interpretation may evolve as new scientific evidence becomes available.
Risks & Considerations
- ●Minimal risk of bruising or mild pain at the blood collection site
- ●FTA card collection has minimal discomfort
- ●Rare risk of infection or excessive bleeding from venipuncture
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Contamination during sample collection
- ●Insufficient sample quantity
- ●Incomplete clinical or family history for accurate interpretation
Compare With Similar Tests
| Test | RETREG1 Gene HSAN2B NGS Genetic Test | ||
|---|---|---|---|
| Comparison | RETREG1 Gene HSAN2B NGS Genetic Test |
Frequently Asked Questions
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