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ERCC2 Gene Trichothiodystrophy NGS Genetic Test

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ERCC2 Gene Trichothiodystrophy NGS Genetic Test

Short Name: ERCC2 TTD NGS Test

Also known as: ERCC2 gene test for Trichothiodystrophy, TTD genetic test, ERCC2 NGS test

ERCC2 Gene Trichothiodystrophy 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. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To diagnose Trichothiodystrophy by identifying mutations in the ERCC2 gene using NGS technology.

Test Code
5157
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree.

Method: Venipuncture for blood or saliva collection

Step 2

Laboratory Analysis

Blood draw or saliva collection performed by trained phlebotomist.

Step 3

Report Delivery

Apply pressure to puncture site. Store sample as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand implications.
2
During the Test:Sample collection and analysis in laboratory.
3
After the Test:Receive report and discuss with healthcare provider.

About This Test

Who Should Get This Test

To diagnose Trichothiodystrophy by identifying mutations in the ERCC2 gene using NGS technology.

How to Prepare

  • Use sterile equipment
  • Label sample correctly
  • Follow storage guidelines

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for ERCC2 gene mutations is crucial for confirming Trichothiodystrophy diagnosis and guiding management. Early detection can help in planning appropriate care and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS analysis
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood or saliva collection

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ERCC2 gene.
📊

Pathogenic mutation detected

Confirms diagnosis of Trichothiodystrophy. Genetic counseling recommended.

📊

No pathogenic mutation detected

TTD unlikely due to ERCC2 mutations, but other genes may be involved. Clinical correlation needed.

📊

Variant of uncertain significance

Further testing or family studies may be required.

⚠️ When to Consult a Doctor:

Consult a geneticist or dermatologist upon receiving results for proper management and family planning.

Limitations

  • ⚠May not detect all mutations in ERCC2 gene
  • ⚠Results require genetic counseling for interpretation
  • ⚠Cannot predict disease severity

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Compare With Similar Tests

TestERCC2 Gene Trichothiodystrophy NGS Genetic TestERCC2 Gene Sanger SequencingWhole Exome SequencingTTD Panel Test
ComparisonERCC2 Gene Trichothiodystrophy NGS Genetic Test

Frequently Asked Questions

What is the ERCC2 Gene Trichothiodystrophy NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the ERCC2 gene, which causes Trichothiodystrophy, a rare disorder affecting hair, skin, and nails.
Who should get this test?
Individuals with symptoms like brittle hair, scaly skin, photosensitivity, or developmental delays, or those with a family history of TTD.
How is the test performed?
A blood or saliva sample is collected and analyzed in a laboratory using NGS technology to identify ERCC2 gene mutations.
What is the cost of the test in India?
The cost is approximately INR 20,000 at DNA Labs India, with home sample collection available.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What are the symptoms of Trichothiodystrophy?
Symptoms include brittle hair, slow hair growth, scaly skin, photosensitivity, and intellectual disability or developmental delays.
Can this test diagnose other conditions?
This test specifically targets ERCC2 gene mutations for TTD. Other genetic tests may be needed for related conditions.
What if the test result is positive?
A positive result confirms TTD diagnosis. Genetic counseling is recommended to understand management and family implications.
Is genetic counseling provided?
Yes, a genetic counseling session is included to draw a family pedigree and discuss results.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw. Psychological impact of results should be considered.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations, but results should be interpreted by a genetic specialist.
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.

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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.

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