DDB2 Gene Xeroderma pigmentosum, group E, DDB-negative subtype NGS Genetic Test
Short Name: DDB2 Gene XP Group E NGS Test
Also known as: XP Group E Genetic Test, DDB2 Gene Mutation Test, Xeroderma Pigmentosum Type E NGS Test
DDB2 Gene Xeroderma pigmentosum, group E, DDB-negative subtype 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the DDB2 Gene Xeroderma Pigmentosum, Group E NGS Genetic Test is to identify mutations in the DDB2 gene for definitive diagnosis of this XP subtype, enabling early intervention, genetic counselling, and personalized management to prevent complications such as skin cancer and neurological decline.
- Test Code
- 5177
- 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)
Sample Collection
Provide detailed clinical history and undergo a genetic counselling session to draw a pedigree chart of affected family members.
Method: Venipuncture or finger-prick
Laboratory Analysis
A blood sample is collected via venipuncture or a finger-prick for FTA card, following standard aseptic techniques.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store samples at ambient room temperature as per instructions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the DDB2 Gene Xeroderma Pigmentosum, Group E NGS Genetic Test is to identify mutations in the DDB2 gene for definitive diagnosis of this XP subtype, enabling early intervention, genetic counselling, and personalized management to prevent complications such as skin cancer and neurological decline.
How to Prepare
- Ensure patient is relaxed and hydrated
- Use sterile equipment for blood collection
- Label samples correctly with patient details
- Transport samples to the lab within 24 hours
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of Xeroderma Pigmentosum Group E is vital for implementing sun protection strategies and monitoring for skin cancers, significantly improving patient quality of life."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of DDB2 Gene Xeroderma Pigmentosum, Group E. Genetic counselling and management recommended.
No pathogenic variant detected
XP Group E unlikely, but consider other genetic tests if symptoms persist.
Variant of uncertain significance
Further family studies or functional assays may be needed for clarification.
Consult a dermatologist or geneticist if you experience symptoms of XP, have a family history of the disorder, or receive a positive test result for appropriate management and counselling.
Limitations
- ⚠May not detect all possible mutations in the DDB2 gene
- ⚠Genetic variants of uncertain significance may be identified
- ⚠Results require interpretation by a genetic counsellor or specialist
- ⚠Does not rule out other forms of XP or genetic disorders
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Very low risk of infection or fainting
- ●No significant long-term risks associated with the test
Interfering Factors
- ●Hemolyzed or degraded DNA samples may affect test accuracy
- ●Recent blood transfusions could interfere with genetic analysis
- ●Contamination during sample collection or processing
Compare With Similar Tests
| Test | DDB2 Gene Xeroderma pigmentosum, group E, DDB-negative subtype NGS Genetic Test | XPA Gene Test | XPC Gene Test | Comprehensive XP Panel |
|---|---|---|---|---|
| Comparison | DDB2 Gene Xeroderma pigmentosum, group E, DDB-negative subtype NGS Genetic Test |
Frequently Asked Questions
What is DDB2 Gene Xeroderma Pigmentosum, Group E?
How is this condition inherited?
What are the common symptoms?
How is the diagnosis confirmed?
What is the cost of the DDB2 Gene NGS Test?
Is home collection available for this test?
How long does it take to get the results?
What should I do before the test?
Are there any risks associated with the test?
Can Xeroderma Pigmentosum be cured?
How can I prevent complications from XP?
Where can I get this genetic test done?
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₹20,000Reference 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.
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