HINT1 Gene Neuromyotonia and axonal neuropathy, autosomal recessive NGS Genetic Test
Short Name: HINT1 NGS Test
Also known as: HINT1 gene neuromyotonia and axonal neuropathy NGS test, Autosomal recessive HINT1 gene mutation analysis, HINT1 gene sequencing for neuromyotonia and axonal neuropathy
HINT1 Gene Neuromyotonia and axonal neuropathy, autosomal recessive 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 Reports are generated in 3 to 4 weeks after the sample is received by 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
The purpose of this HINT1 gene NGS genetic test is to detect disease-causing variants in the HINT1 gene in individuals with symptoms of neuromyotonia and/or axonal neuropathy, and in at-risk family members. It helps confirm a clinical diagnosis, differentiate HINT1-related disorder from other inherited neuropathies, inform genetic counseling, determine recurrence risk and guide management.
- Test Code
- 4417
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generated in 3 to 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
A genetic counseling session is recommended to draw a pedigree chart and discuss family history, symptoms and expected outcomes. No fasting or special preparation is required. Please carry relevant medical records, EMG/NCS reports and physician referral if available.
Method: Venous phlebotomy or dried blood spot on FTA card
Laboratory Analysis
A small amount of whole blood is collected in an EDTA tube by a trained phlebotomist. Alternatively, a laboratory-supplied FTA card can be used for a single drop of blood, or an extracted DNA sample can be submitted.
Report Delivery
There are no activity restrictions after sample collection. The laboratory will process the sample and share the clinical report along with raw data, FASTQ and VCF files after 3 to 4 weeks.
Timeline: Reports are generated in 3 to 4 weeks after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this HINT1 gene NGS genetic test is to detect disease-causing variants in the HINT1 gene in individuals with symptoms of neuromyotonia and/or axonal neuropathy, and in at-risk family members. It helps confirm a clinical diagnosis, differentiate HINT1-related disorder from other inherited neuropathies, inform genetic counseling, determine recurrence risk and guide management.
How to Prepare
- Use an EDTA tube for whole blood collection
- Submit extracted DNA in a sterile, labelled DNA vial
- For FTA card sample, apply one drop of blood on the designated circle and allow it to dry
- Label the sample with patient name, date of birth and collection date/time
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"For inherited neuropathies, a multidisciplinary approach is important. The clinical geneticist interprets the HINT1 NGS result, while the obstetrician-gynaecologist supports reproductive counseling and carrier-risk discussion for family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Mislabeled or unlabeled sample
- Hemolyzed, lipemic or clotted blood sample
- Insufficient DNA quantity or degraded DNA
- Use of heparinized blood or heparin contamination
- Sample leaking from the container
Understanding Your Results
Reduces the likelihood of HINT1-related neuromyotonia and axonal neuropathy, but does not exclude an inherited cause if clinical suspicion is high. Other genes or non-genetic causes should be considered.
Result type: No pathogenic variant detected
Consistent with autosomal recessive HINT1-related neuromyotonia and axonal neuropathy.
Result type: Homozygous or compound heterozygous pathogenic or likely pathogenic variant
Indicates carrier status for an autosomal recessive condition. If the patient is affected, a second variant in the other allele may not have been detected or another genetic cause may be present.
Result type: Single heterozygous pathogenic or likely pathogenic variant
The clinical significance of this variant is currently uncertain. Additional family segregation studies and functional evidence may be required; this result should not be used alone for medical management.
Result type: Variant of uncertain significance (VUS)
Consult a neurologist or clinical geneticist if you or a family member has muscle stiffness, cramps, twitching, progressive weakness or signs of peripheral neuropathy. After the test, schedule a follow-up consultation to understand the report and its implications for family members.
Limitations
- ⚠NGS may not detect all large deletions, structural rearrangements, deep intronic variants or repeat expansions
- ⚠Targeted NGS does not rule out disease-causing variants in other neuropathy-associated genes
- ⚠A negative result does not exclude all inherited or non-genetic causes of neuromyotonia and axonal neuropathy
- ⚠Variants of uncertain significance may be reported and may require additional family studies
Risks & Considerations
- ●Bruising or pain at the venipuncture site
- ●Temporary dizziness during blood collection
- ●Psychological stress from a positive, carrier or uncertain genetic result
- ●Possible detection of a variant of uncertain significance
Interfering Factors
- ●Poor DNA quality or insufficient DNA quantity
- ●Hemolyzed, clotted or contaminated blood sample
- ●Contamination during sample collection or handling
- ●Heparin contamination from an incorrect blood collection tube
- ●Sequencing gaps or low coverage in certain regions of the HINT1 gene
Compare With Similar Tests
| Test | HINT1 Gene Neuromyotonia and axonal neuropathy, autosomal recessive NGS Genetic Test | HINT1 Targeted Sanger Sequencing | Peripheral Neuropathy NGS Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | HINT1 Gene Neuromyotonia and axonal neuropathy, autosomal recessive NGS Genetic Test |
Frequently Asked Questions
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