POLH Gene Xeroderma pigmentosum, variant type NGS Genetic Test
Short Name: POLH Gene XP Variant Test
Also known as: Xeroderma Pigmentosum Variant Type, POLH Gene XP Test, XP Variant Genetic Test
POLH Gene Xeroderma pigmentosum, variant type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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 diagnose Xeroderma pigmentosum variant type by detecting pathogenic variants in the POLH gene using Next-Generation Sequencing (NGS), enabling early intervention and management to reduce skin cancer risk.
- Test Code
- 5180
- 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 (Next-Generation Sequencing)
Sample Collection
Provide detailed clinical history and family pedigree. Genetic counseling session recommended to discuss implications and draw a pedigree chart.
Method: Venipuncture or finger prick
Laboratory Analysis
Blood sample collected via venipuncture or saliva sample using a sterile kit. Minimal discomfort involved.
Report Delivery
Sample is transported to the laboratory under controlled conditions. Analysis takes 3-4 weeks, and results are delivered via online portal, email, or WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Xeroderma pigmentosum variant type by detecting pathogenic variants in the POLH gene using Next-Generation Sequencing (NGS), enabling early intervention and management to reduce skin cancer risk.
How to Prepare
- Ensure sample is collected in a sterile environment
- Avoid contamination by following aseptic techniques
- Label the sample correctly with patient details
- For blood samples, use appropriate anticoagulant tubes
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for POLH gene variants can help in timely diagnosis and management of Xeroderma pigmentosum variant type, reducing skin cancer risk through proactive sun protection and monitoring."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume for analysis
- Incorrect sample type or container
- Sample contaminated or improperly labeled
Understanding Your Results
Pathogenic variant detected
Diagnosis of Xeroderma pigmentosum variant type confirmed. Increased risk of skin cancer and other complications. Consult a dermatologist and genetic counselor for management.
No variant detected
Xeroderma pigmentosum variant type is unlikely. Consider other genetic or environmental causes for symptoms.
Variant of uncertain significance (VUS)
Further testing, family studies, and clinical correlation are needed. Genetic counseling recommended for guidance.
If you experience symptoms such as severe sun sensitivity, skin freckling, blistering after sun exposure, or have a family history of Xeroderma pigmentosum, consult a dermatologist or geneticist for evaluation and possible testing.
Limitations
- ⚠May not detect all possible variants in the POLH gene
- ⚠Requires genetic counseling for accurate interpretation of results
- ⚠Not a standalone diagnostic tool for all types of Xeroderma pigmentosum
- ⚠Results may be affected by mosaicism or low-level variants
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic diagnosis, including anxiety or stress
- ●Potential for incidental findings unrelated to XP
Interfering Factors
- ●DNA degradation due to improper sample handling
- ●Sample contamination during collection or transport
- ●Technical errors in sequencing or analysis
Compare With Similar Tests
| Test | POLH Gene Xeroderma pigmentosum, variant type NGS Genetic Test | XPA Gene Xeroderma Pigmentosum NGS Test | XPC Gene Xeroderma Pigmentosum NGS Test | Comprehensive XP Gene Panel | Dermatology Genetic Panel |
|---|---|---|---|---|---|
| Comparison | POLH Gene Xeroderma pigmentosum, variant type NGS Genetic Test |
Frequently Asked Questions
What is the POLH gene?
What is Xeroderma pigmentosum variant type?
What are the common symptoms of XP variant type?
How is XP variant type diagnosed?
What is the cost of the POLH Gene NGS Genetic Test?
Is home sample collection available for this test?
How long does it take to receive the test results?
Is the test procedure painful?
Can children be tested for XP variant type?
What happens if a pathogenic variant is detected?
Is genetic counseling included with the test?
How accurate is the NGS genetic test for POLH gene?
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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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✓ 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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