ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test
Short Name: ERCC2 XP-D NGS Test
Also known as: Xeroderma pigmentosum group D, XP-D, ERCC2-related disorder
ERCC2 Gene Xeroderma pigmentosum, group D 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
The purpose of the ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test is to identify mutations in the ERCC2 gene that cause Xeroderma pigmentosum, group D (XP-D). This test aids in confirming diagnosis, guiding clinical management, facilitating carrier detection, and supporting family planning decisions for individuals with symptoms or a family history of XP-D.
- Test Code
- 5175
- 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 is required. Genetic counseling is recommended prior to testing to discuss implications.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture by a trained phlebotomist. Alternatively, extracted DNA or a blood drop on an FTA card can be used.
Report Delivery
Apply pressure to the puncture site with a cotton ball to stop bleeding. Keep the area clean and dry.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test is to identify mutations in the ERCC2 gene that cause Xeroderma pigmentosum, group D (XP-D). This test aids in confirming diagnosis, guiding clinical management, facilitating carrier detection, and supporting family planning decisions for individuals with symptoms or a family history of XP-D.
How to Prepare
- Ensure proper patient identification and labeling of samples
- Use sterile collection equipment to prevent contamination
- Follow standard phlebotomy procedures for blood draw
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for XP-D can guide management and family planning, especially for at-risk families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Xeroderma pigmentosum, group D (XP-D). Genetic counseling and management strategies should be implemented.
Variant of uncertain significance (VUS) detected
Further testing or family studies may be needed. Clinical correlation is essential.
No pathogenic variant detected
XP-D is unlikely based on this gene, but clinical symptoms may warrant evaluation for other causes.
Consult a doctor if you or a family member exhibits symptoms of XP-D, such as severe sun sensitivity, unusual freckling, early skin cancers, or neurological issues. Genetic counseling is advised before and after testing.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or intronic variants
- ⚠Results require interpretation by a geneticist in clinical context
- ⚠Does not assess other genes associated with Xeroderma pigmentosum
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results, including anxiety or distress
Interfering Factors
- ●Sample degradation or contamination
- ●Insufficient DNA quantity or quality
- ●Technical errors in sequencing or analysis
Compare With Similar Tests
| Test | ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test | ERCC2 Gene Sanger Sequencing | Xeroderma pigmentosum Comprehensive Panel |
|---|---|---|---|
| Comparison | ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test |
Frequently Asked Questions
What is Xeroderma pigmentosum, group D (XP-D)?
What causes XP-D?
What are the symptoms of XP-D?
How is XP-D diagnosed?
What is the ERCC2 gene?
What is NGS genetic testing?
How much does the ERCC2 NGS test cost in India?
Is home sample collection available for this test?
How long does it take to get results?
What should I do if I have a family history of XP-D?
Can XP-D be treated?
Is genetic counseling necessary before testing?
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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.
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