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XPA Gene Xeroderma pigmentosum, group A NGS Genetic Test

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XPA Gene Xeroderma pigmentosum, group A NGS Genetic Test

Short Name: XPA Gene XP NGS Test

Also known as: Xeroderma pigmentosum, XP

XPA Gene Xeroderma pigmentosum, group A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood, 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Xeroderma pigmentosum group A by detecting mutations in the XPA gene using NGS technology, enabling early management and genetic counseling.

Test Code
5173
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

No special preparation required. Provide detailed clinical history and family pedigree during genetic counseling session.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist using venipuncture, or a drop of blood on an FTA card as specified.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Store the sample as instructed for stability.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss the test, provide family history, and understand implications. No fasting required.
2
During the Test:The blood sample is processed in the laboratory using NGS technology to sequence the XPA gene and identify mutations.
3
After the Test:Results are reviewed by a geneticist and a report is generated. Genetic counseling is recommended to discuss findings.

About This Test

Who Should Get This Test

To diagnose Xeroderma pigmentosum group A by detecting mutations in the XPA gene using NGS technology, enabling early management and genetic counseling.

How to Prepare

  • Ensure proper patient identification and labeling
  • Use sterile equipment and follow aseptic techniques
  • Collect sample in appropriate container (EDTA tube or FTA card)
  • Transport sample to lab at ambient temperature unless specified otherwise

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test is crucial for early diagnosis and management of Xeroderma pigmentosum to prevent skin cancer and guide genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Room temperature24 hours for blood
Refrigerated (2-8°C)7 days for blood
FTA cardStable at room temperature for extended periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted blood sample
  • Incorrect labeling or mismatched patient information
  • Sample contaminated or improperly stored

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the XPA gene associated with Xeroderma pigmentosum group A.
📊

Pathogenic variant detected

Confirms diagnosis of Xeroderma pigmentosum group A. Recommend genetic counseling, UV protection, and regular skin cancer screening.

📊

No pathogenic variant detected

XP group A is unlikely, but clinical correlation is recommended. Consider other genetic causes or further testing if symptoms persist.

📊

Variant of uncertain significance (VUS)

Further analysis or family studies may be needed. Consult a geneticist for guidance.

⚠️ When to Consult a Doctor:

If symptoms of Xeroderma pigmentosum are present, such as severe sun sensitivity, freckling, or eye problems, or if there is a family history of the condition. Consult a dermatologist or geneticist for evaluation.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or intronic variants
  • ⚠Requires clinical correlation and genetic counseling for accurate interpretation
  • ⚠Results may not predict disease severity or progression

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection at puncture site
  • ●Psychological impact of genetic results; counseling available

Interfering Factors

  • ●Degraded or insufficient DNA sample
  • ●Contamination during sample collection or processing
  • ●Technical errors in NGS sequencing

Compare With Similar Tests

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Frequently Asked Questions

What is Xeroderma pigmentosum?
Xeroderma pigmentosum (XP) is a rare genetic disorder that causes extreme sensitivity to ultraviolet (UV) radiation from sunlight, leading to skin damage and a high risk of skin cancer.
What is the XPA gene?
The XPA gene is involved in nucleotide excision repair, a process that fixes DNA damage caused by UV exposure. Mutations in this gene cause group A of Xeroderma pigmentosum.
Who should get the XPA Gene NGS Genetic Test?
Individuals with symptoms of XP, such as severe sun sensitivity, freckling, or eye problems, or those with a family history of the condition should consider this test.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze the XPA gene from a blood or DNA sample, identifying mutations associated with XP group A.
What is the cost of the test?
The cost of the XPA Gene Xeroderma pigmentosum NGS Genetic Test at DNA Labs India is INR 20000, with free home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate whether pathogenic mutations in the XPA gene are detected, confirming XP group A, or if no mutations are found, suggesting XP is unlikely.
Is the test covered by insurance?
Coverage varies by insurance plan. It is recommended to check with your provider for specific coverage details.
What are the risks of the test?
The test involves a blood draw, which may cause minor bruising or discomfort. There is a rare risk of infection, and genetic results may have psychological impacts.
Can this test detect all types of Xeroderma pigmentosum?
This test specifically detects mutations in the XPA gene for group A. Other groups may require different genetic tests.
How can I prepare for the test?
No special preparation is needed. Provide your clinical history and family pedigree during genetic counseling before the test.
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.

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✓ 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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