ERCC3 Gene Trichothiodystrophy NGS Genetic Test
Short Name: ERCC3 TTD NGS Test
Also known as: TTD Genetic Test, ERCC3 Mutation Analysis
ERCC3 Gene Trichothiodystrophy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To detect mutations in the ERCC3 gene for the diagnosis of Trichothiodystrophy, aiding in clinical management and genetic counseling.
- Test Code
- 5156
- 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
- NGS Technology
Sample Collection
No specific preparation required. Provide clinical history and undergo genetic counseling if recommended.
Method: Venipuncture or Saliva Collection
Laboratory Analysis
Blood sample collected via venipuncture or saliva sample using a kit. Ensure proper labeling and handling.
Report Delivery
Apply pressure to the puncture site if blood drawn. Store samples as instructed and transport to the lab promptly.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the ERCC3 gene for the diagnosis of Trichothiodystrophy, aiding in clinical management and genetic counseling.
How to Prepare
- Fast for 4-6 hours if specified, though not mandatory
- Avoid contamination of saliva sample
- Bring referral form and ID
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As an obstetrician, I recommend this test for families with a history of genetic disorders to ensure early diagnosis and appropriate management, especially in prenatal or pediatric contexts."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
Negative
No pathogenic variants detected in the ERCC3 gene. Clinical correlation recommended.
Positive
Pathogenic variant(s) identified, confirming diagnosis of Trichothiodystrophy. Genetic counseling advised.
Variant of Uncertain Significance
Genetic variant detected but clinical significance unknown. Further family studies or testing may be needed.
If symptoms of Trichothiodystrophy are present, such as brittle hair, photosensitivity, or developmental delays, or if there is a family history of the disorder.
Limitations
- ⚠May not detect all genetic variants or mosaicism
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Improper sample storage
Compare With Similar Tests
| Test | ERCC3 Gene Trichothiodystrophy NGS Genetic Test | XPB Gene Test | XPD Gene Test | Trichothiodystrophy Panel Test | DNA Repair Disorder Genetic Test |
|---|---|---|---|---|---|
| Comparison | ERCC3 Gene Trichothiodystrophy NGS Genetic Test | Tests for mutations in the XPB gene, another cause of Trichothiodystrophy. | Detects mutations in the XPD gene associated with similar disorders. | Comprehensive panel testing multiple genes linked to Trichothiodystrophy. | Broader test for various DNA repair deficiencies. |
Frequently Asked Questions
What is Trichothiodystrophy?
What causes Trichothiodystrophy?
How is the ERCC3 Gene Test performed?
What samples are required for the test?
How long does it take to get results?
What is the cost of the test?
Is home sample collection available?
What are the symptoms of Trichothiodystrophy?
How accurate is the NGS genetic test?
Can the test be done for prenatal diagnosis?
What should I do after receiving the results?
Is genetic counseling necessary?
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