SOX10 Gene Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease NGS Genetic Test
Short Name: SOX10 Gene NGS Test
Also known as: SOX10 Gene Mutation Analysis, Waardenburg-Hirschsprung Neuropathy Panel, SOX10 Next-Generation Sequencing
SOX10 Gene Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease 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 typically delivered within 3 to 4 weeks. Occasionally, if additional confirmatory testing is required (e.g., Sanger sequencing verification), the turnaround time may increase by 1 week.. 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 test is to identify pathogenic variants in the SOX10 gene that are responsible for peripheral demyelinating neuropathy, Waardenburg syndrome, and Hirschsprung disease. Confirmatory genetic diagnosis helps guide clinical management, surveillance, genetic counseling, and risk assessment for family members. It may also assist in reproductive decision-making, including prenatal or preimplantation genetic testing when applicable.
- Test Code
- 4446
- CPT Code
- 81406
- ICD Code
- G60.9, E70.3, Q43.1, N/A
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks. Occasionally, if additional confirmatory testing is required (e.g., Sanger sequencing verification), the turnaround time may increase by 1 week.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation such as fasting is required. Please bring your previous medical records, family history details, and any prior genetic testing reports. If you are having a blood draw, wear sleeves that can be rolled up.
Method: Venipuncture, dried blood spot, or DNA extraction from saliva/buccal swab
Laboratory Analysis
The sample is collected by a trained phlebotomist. The procedure is quick and minimally invasive. For FTA card collection, a drop of blood is taken from a finger prick.
Report Delivery
You may resume normal activities. You may experience minor bruising at the puncture site, which will resolve on its own. Your sample will be transported to DNA Labs India for analysis.
Timeline: Reports are typically delivered within 3 to 4 weeks. Occasionally, if additional confirmatory testing is required (e.g., Sanger sequencing verification), the turnaround time may increase by 1 week.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the SOX10 gene that are responsible for peripheral demyelinating neuropathy, Waardenburg syndrome, and Hirschsprung disease. Confirmatory genetic diagnosis helps guide clinical management, surveillance, genetic counseling, and risk assessment for family members. It may also assist in reproductive decision-making, including prenatal or preimplantation genetic testing when applicable.
How to Prepare
- No fasting or dietary restrictions required
- FTA card samples must be air-dried for at least 30 minutes before sealing in the provided bag
- Ensure the sample container is labelled correctly with your patient ID
- Avoid sharing the sample collection device with anyone else
- Inform the lab if you have received a blood or stem cell transplant, as this may affect the result
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for SOX10 mutations is essential for confirming the clinical diagnosis, enabling targeted surveillance, and providing informed recurrence-risk counseling for families. As an Ob-Gyn, I recommend referral to a clinical geneticist for all individuals with features suggestive of SOX10-related disorders, particularly before planning a pregnancy."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic blood samples
- Clotted blood in EDTA tube
- Incorrectly labeled sample
- Sample leaking from the container
- Insufficient amount of DNA for analysis (less than 500 ng)
- FTA card damaged or excessively wet with blood
Understanding Your Results
If you have symptoms suggestive of peripheral demyelinating neuropathy, Waardenburg syndrome, or Hirschsprung disease, or if you have a family history of these conditions, consult a clinical geneticist or your primary care physician for referral. Genetic counseling should be obtained before and after the test to discuss implications, risks, and reproductive options.
Limitations
- ⚠NGS does not reliably detect large deletions/duplications within SOX10 (use MLPA or array-CGH if required)
- ⚠Deep intronic variants or regulatory region mutations beyond the covered splice sites will not be detected
- ⚠Repeat expansions or structural rearrangements may be missed
- ⚠A negative result does not exclude a cause other than SOX10 for the clinical symptoms
- ⚠Variant classification is based on current ACMG guidelines and may be revised over time as new evidence emerges
Risks & Considerations
- ●Minimal risks from blood draw: slight bruising, infection (very rare)
- ●Emotional or psychological impact of receiving a genetic result
- ●Uncertainty in the interpretation of a VUS
- ●Insurance or employment discrimination (rare; regulated by law in India)
Interfering Factors
- ●Contamination with non-forensic DNA (e.g., from food or beverages) if buccal swab is used
- ●Poor DNA quality due to degradation or hemolysis
- ●Presence of somatic mosaicism may cause low-level variant detection challenges
- ●Extremely high GC-content regions may have reduced coverage
- ●Pseudogene homology in the SOX10 genomic region
Compare With Similar Tests
| Test | SOX10 Gene Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease NGS Genetic Test | SOX10 Single-Gene Sequencing | Waardenburg Syndrome Multigene Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | SOX10 Gene Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease NGS Genetic Test |
Frequently Asked Questions
What is the cost of the SOX10 gene NGS genetic test in India?
What conditions are associated with SOX10 gene mutations?
What is the sample type required for this test?
Do I need to fast before the test?
How long does it take to receive the reports?
Will I receive raw data along with the clinical report?
Who should consider taking this test?
What is the method used for this test?
Is genetic counseling necessary before the test?
Does a negative result rule out the disease?
Can this test detect carrier status?
Is home sample collection available across India?
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