SPTLC1 Gene HSAN1 NGS Genetic Test
Short Name: SPTLC1 HSAN1 NGS Genetic Test
Also known as: SPTLC1 HSAN1 NGS Test, HSAN1 Genetic Test, Hereditary Sensory Neuropathy Type 1 DNA Test
SPTLC1 Gene HSAN1 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 after the sample reaches the laboratory.. 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 identify mutations in the SPTLC1 gene associated with HSAN1, allowing accurate diagnosis, differentiated management, and genetic counseling.
- Test Code
- 4124
- CPT Code
- N/A
- ICD Code
- G60.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counseling session is recommended before testing to draw a pedigree chart of family members affected with SPTLC1 Gene HSAN1 disease and to review the clinical history.
Method: Peripheral venipuncture or finger-prick FTA card spot
Laboratory Analysis
A small amount of blood is drawn from the arm, or one drop of blood is placed on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
No post-test restriction is required. You may continue normal activities immediately.
Timeline: 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the SPTLC1 gene associated with HSAN1, allowing accurate diagnosis, differentiated management, and genetic counseling.
How to Prepare
- Submit EDTA whole blood in an EDTA vacutainer.
- Alternatively, provide extracted DNA in a sterile DNA vial.
- Use an FTA card with one drop of blood for simple transport.
- Label all samples clearly with patient name, date of birth, and collection date.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A positive SPTLC1 result should always be reviewed with the patient's clinical history and neurological examination. Pre- and post-test genetic counseling helps patients understand inheritance, risks to relatives, and available management options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic blood samples
- Clotted blood samples in EDTA
- Unlabeled or mislabeled samples
- Samples stored at room temperature for more than 72 hours
Understanding Your Results
Consult a neurologist or genetic counselor if you have progressive numbness, pain, weakness, recurrent foot ulcers, or a family history of HSAN1. Seek medical advice before and after genetic testing to understand the clinical implications.
Limitations
- ⚠NGS detects single-nucleotide variants and small insertions/deletions but may not reliably detect large structural rearrangements or trinucleotide repeat expansions.
- ⚠A negative result does not rule out HSAN1 caused by mutations in other genes.
- ⚠Variants of uncertain significance may require additional family segregation studies or functional evidence.
- ⚠This test is designed for diagnostic confirmation; prenatal testing requires additional consent, validation, and genetic counseling.
Risks & Considerations
- ●Minimal risk from blood draw
- ●Possible bruising or pain at the collection site
- ●Rare vasovagal episode or faintness during blood collection
Interfering Factors
- ●Recent allogeneic bone marrow transplant or blood transfusion
- ●Sample contamination during collection or processing
- ●Highly degraded or fragmented DNA
- ●Incorrect sample labeling or mismatch
Compare With Similar Tests
| Test | SPTLC1 Gene HSAN1 NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | SPTLC1 Gene HSAN1 NGS Genetic Test |
Frequently Asked Questions
What is the SPTLC1 Gene HSAN1 NGS Genetic Test?
Who should consider this test?
What sample is needed?
Is fasting required?
How long does it take to get the report?
What does the test cost at DNA Labs India?
What is the accuracy of NGS for HSAN1?
Does the result rule out HSAN1 if no mutation is found?
Will I receive raw data files?
Is home sample collection available?
Is genetic counseling recommended?
Can this test be used for prenatal diagnosis?
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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.
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