Skip to main content
DNA Labs India

TRPV3 Gene Olmsted syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TRPV3 Gene Olmsted syndrome NGS Genetic Test

Short Name: TRPV3 NGS

Also known as: TRPV3 Gene Sequencing, Olmsted Syndrome Genetic Test, TRPV3 Mutation Analysis

TRPV3 Gene Olmsted syndrome 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 after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 3, 2026

Overview

The purpose of this test is to identify pathogenic variants in the TRPV3 gene that are associated with Olmsted syndrome. This genetic confirmation helps in establishing a definitive diagnosis, differentiating from other palmoplantar keratodermas, and enabling appropriate medical management and surveillance. It also facilitates genetic counseling for at-risk family members and informs reproductive decisions.

Test Code
5879
CPT Code
81408
ICD Code
Q82.8
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 after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. A genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

Blood sample is collected by a trained phlebotomist using standard venipuncture technique. For FTA card, a drop of blood is applied to the card and allowed to dry.

Step 3

Report Delivery

No specific precautions. The sample is transported to the laboratory at ambient temperature.

Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No fasting required. A genetic counseling session is recommended to discuss the purpose, risks, and benefits of testing.
2
During the Test:The test involves a simple blood draw or FTA card sample collection. No pain or discomfort beyond the needle prick.
3
After the Test:You can resume normal activities immediately. Results will be available in 3-4 weeks and will be communicated via your preferred method.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the TRPV3 gene that are associated with Olmsted syndrome. This genetic confirmation helps in establishing a definitive diagnosis, differentiating from other palmoplantar keratodermas, and enabling appropriate medical management and surveillance. It also facilitates genetic counseling for at-risk family members and informs reproductive decisions.

How to Prepare

  • Ensure patient identity verification before collection.
  • Use EDTA vacutainer for blood sample; label properly.
  • For FTA card, apply blood directly and air dry for at least 30 minutes.
  • Transport samples to the lab within 24-48 hours.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Olmsted syndrome is a rare genodermatosis with significant impact on quality of life. Early genetic confirmation via NGS can guide management and family counseling."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 FTA card spot
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or FTA card spot

Sample Stability

Blood: 7 days at room temperature, 14 days at 2-8°C
Extracted DNA: stable for months at -20°C
FTA card: stable for years at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling or missing requisition form
  • Sample received after prolonged delay without proper storage

Understanding Your Results

The interpretation of TRPV3 gene sequencing results should be performed by a qualified geneticist. A positive result indicates the presence of a pathogenic variant associated with Olmsted syndrome, confirming the diagnosis. A negative result does not completely rule out the condition, as mutations may be present in regions not covered by this test.
📊

Pathogenic variant detected

Confirms diagnosis of Olmsted syndrome. Genetic counseling recommended for family members.

📊

Variant of uncertain significance (VUS)

Further testing or family studies may be needed to clarify pathogenicity.

📊

No pathogenic variant detected

Does not rule out Olmsted syndrome; consider other genetic causes or clinical re-evaluation.

⚠️ When to Consult a Doctor:

Consult a dermatologist or geneticist if you or your child have symptoms like thickened skin on palms/soles, periorificial plaques, or nail abnormalities. Genetic testing can provide a definitive diagnosis and guide management.

Limitations

  • ⚠This test detects mutations in the TRPV3 gene only; other genes may cause similar phenotypes.
  • ⚠Variants of uncertain significance may be reported; further functional studies may be needed.
  • ⚠NGS may not detect all types of mutations (e.g., deep intronic, large rearrangements).
  • ⚠Genetic counseling is recommended to interpret results.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of genetic results
  • ●Potential for variants of uncertain significance

Interfering Factors

  • ●Contamination of sample with foreign DNA
  • ●Insufficient DNA quantity or quality
  • ●Presence of large deletions/duplications not detected by standard NGS
  • ●Mosaic variants may be missed

Compare With Similar Tests

TestTRPV3 Gene Olmsted syndrome NGS Genetic TestWhole Exome Sequencing (WES)Targeted Gene Panel (Keratoderma Panel)
ComparisonTRPV3 Gene Olmsted syndrome NGS Genetic Test

Frequently Asked Questions

What is Olmsted syndrome?
Olmsted syndrome is a rare genetic disorder characterized by severe thickening of the skin on the palms and soles (palmoplantar keratoderma), periorificial keratotic plaques, and often associated with alopecia, nail dystrophy, and hearing loss. It is caused by mutations in the TRPV3 gene.
How is the TRPV3 gene test performed?
The test uses next-generation sequencing (NGS) to analyze the TRPV3 gene for mutations. A blood sample or extracted DNA is required. The sample is processed in the laboratory, and results are typically available within 3-4 weeks.
What is the cost of the TRPV3 gene test at DNA Labs India?
The cost is INR 20000, which includes the genetic test and a genetic counseling session. Free home sample collection is available for online bookings.
What sample is needed for the test?
The sample can be blood (2-3 ml in EDTA tube), extracted DNA, or one drop of blood on an FTA card. The choice depends on convenience and laboratory requirements.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample is received by the laboratory.
Can this test be done for children?
Yes, the test is suitable for all age groups, including children, especially if they show symptoms suggestive of Olmsted syndrome.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic mutation in the TRPV3 gene, confirming the diagnosis of Olmsted syndrome. Genetic counseling is recommended to discuss implications for the patient and family.
What if the test result is negative?
A negative result means no pathogenic variant was found in the TRPV3 gene. However, it does not completely rule out Olmsted syndrome, as mutations in other genes or non-coding regions may be responsible. Further evaluation may be needed.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, and others.
Will my insurance cover the cost?
Insurance coverage varies. It is advisable to check with your insurance provider. DNA Labs India does not directly bill insurance, but you can submit the receipt for reimbursement if applicable.
How do I book this test?
You can book online through the DNA Labs India website or call the customer care number. The test is available at a discounted price of INR 20000 with free home collection.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

Related Tests

KIAA0586 Gene Joubert syndrome type 23 NGS Genetic Test

₹20,000

CAT Gene Acatalasemia NGS Genetic Test

₹20,000

BLM Gene Bloom syndrome NGS Genetic Test

₹20,000

FANCC Gene Fanconi anemia type C NGS Genetic Test

₹20,000

TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test

₹20,000

PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test

₹20,000
For Hospitals & Clinics

Reference Laboratory Services

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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.