ELP1 Gene HSAN3 NGS Genetic Test
Short Name: ELP1 HSAN3 NGS Test
Also known as: Familial Dysautonomia, Riley-Day Syndrome, ELP1 Gene Mutation Test, IKBKAP Gene NGS Test
ELP1 Gene HSAN3 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 generally available within 3 to 4 weeks from the date of sample receipt. In case of additional confirmatory testing, the turnaround time may extend.. 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 primary purpose of the ELP1 gene HSAN3 NGS Genetic Test is to identify mutations in the ELP1 gene that cause HSAN3. This test is used to confirm a suspected diagnosis, differentiate it from other neuropathies, facilitate early treatment, and provide accurate recurrence risk assessment for family planning. It also aids in carrier detection in at-risk individuals.
- Test Code
- 4126
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally available within 3 to 4 weeks from the date of sample receipt. In case of additional confirmatory testing, the turnaround time may extend.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. A genetic counseling session is recommended to document family history and ask any questions about the test.
Method: Venipuncture or Fingerstick
Laboratory Analysis
The blood sample is drawn from a vein in the arm or a fingerstick blood spot on an FTA card. The procedure is quick and typically painless.
Report Delivery
You may resume normal activities immediately. No restrictions are necessary.
Timeline: Reports are generally available within 3 to 4 weeks from the date of sample receipt. In case of additional confirmatory testing, the turnaround time may extend.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the ELP1 gene HSAN3 NGS Genetic Test is to identify mutations in the ELP1 gene that cause HSAN3. This test is used to confirm a suspected diagnosis, differentiate it from other neuropathies, facilitate early treatment, and provide accurate recurrence risk assessment for family planning. It also aids in carrier detection in at-risk individuals.
How to Prepare
- Maintain the sample at ambient temperature if using FTA card
- Do not freeze blood samples collected in EDTA without prior consultation
- Ensure the FTA card is labeled with patient identification
- Samples should be transported to the laboratory within 24-48 hours
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"This test is valuable for couples planning a family and individuals with clinical features suggestive of HSAN3. Genetic counseling is recommended before and after testing to understand the implications for affected individuals and family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood samples
- Clotted EDTA samples
- FTA card with insufficient blood spot
- Improperly labeled samples
- Samples received beyond the stability period
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms the diagnosis of HSAN3 if clinical features are consistent. Indicates biallelic mutations in ELP1 gene.
Action: Medical management and genetic counseling for the family. Discuss supportive care and prenatal options if applicable.
Negative (No pathogenic variant detected)
HSAN3 due to ELP1 gene is unlikely. Alternative diagnoses should be considered.
Action: Evaluate other inherited neuropathies or acquire causes; consider whole exome sequencing if strong clinical suspicion persists.
Variant of Uncertain Significance (VUS)
A genetic change was found but its association with disease is unknown.
Action: Follow up with segregation analysis in family members and further functional studies if available.
Consult a neurologist if you or your child have symptoms such as decreased pain sensation, unexplained falls, feeding difficulties in infancy, frequent infections due to lack of tears, or autonomic instability. If you have a family history of HSAN3, consult a genetic counselor for carrier testing and reproductive planning.
Limitations
- ⚠This test detects variants in the ELP1 gene only and does not rule out other causes of hereditary neuropathy
- ⚠NGS may not detect large genomic deletions or duplications reliably unless specially analyzed
- ⚠Interpretation of variants of unknown significance may require additional family studies
- ⚠Test does not assess the functional impact of variants at the protein level
Risks & Considerations
- ●There is no significant physical risk associated with a blood draw. Mild bruising or pain at the site may occur.
- ●Emotional and psychological risk due to unexpected results
- ●Potential impact on family dynamics and reproductive decisions
Interfering Factors
- ●Presence of maternal cell contamination in fetal samples
- ●Very low DNA quality or quantity from improper storage
- ●Hematopoietic chimerism in bone marrow transplant recipients
- ●Rare variants in non-coding regulatory regions not covered by standard NGS
Compare With Similar Tests
| Test | ELP1 Gene HSAN3 NGS Genetic Test | ELP1 Targeted Single Site Analysis | ELP1 Gene Full Sequencing by NGS | Hereditary Neuropathy Panel |
|---|---|---|---|---|
| Comparison | ELP1 Gene HSAN3 NGS Genetic Test |
Frequently Asked Questions
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