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ERCC6 Gene UV-sensitive syndrome type 1 NGS Genetic Test

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ERCC6 Gene UV-sensitive syndrome type 1 NGS Genetic Test

Short Name: ERCC6 UV-sensitive Syndrome NGS Test

Also known as: ERCC6 Mutation Analysis, UV-sensitive Syndrome Type 1 Genetic Test

ERCC6 Gene UV-sensitive syndrome type 1 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.

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

The purpose of this test is to identify pathogenic mutations in the ERCC6 gene associated with UV-sensitive syndrome type 1, aiding in accurate diagnosis, genetic counseling, and personalized medical management.

Test Code
5162
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)
Step 1

Sample Collection

No specific preparation required. Inform the healthcare provider about any medications or supplements.

Method: Venipuncture for blood sample

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm. For FTA card, a drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss implications and family history.
2
During the Test:Sample collection and processing in the laboratory.
3
After the Test:Receive report and follow-up with genetic counselor for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the ERCC6 gene associated with UV-sensitive syndrome type 1, aiding in accurate diagnosis, genetic counseling, and personalized medical management.

How to Prepare

  • Ensure the patient is hydrated
  • Use sterile equipment
  • Label the sample correctly
  • Transport to lab at ambient temperature

Doctor's Notes

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

"This NGS test is essential for diagnosing UV-sensitive syndrome, which can guide preventive measures and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood sample

Sample Stability

Room Temperature48 hours
Refrigerated7 days
Sample Rejection Criteria:
  • Hemolyzed or lipemic sample
  • Insufficient sample volume
  • Incorrect sample type or container

Understanding Your Results

Results indicate the presence or absence of mutations in the ERCC6 gene. A positive result confirms UV-sensitive syndrome type 1, while a negative result may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of UV-sensitive syndrome type 1. Genetic counseling recommended.

📊

No pathogenic variant detected

Reduces likelihood of ERCC6-related syndrome. Consider other genetic tests if symptoms persist.

📊

Variant of uncertain significance

Further analysis or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience severe sun sensitivity, skin changes, or neurological symptoms, or if you have a family history of genetic disorders.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or intronic variants
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not rule out other genetic conditions with similar symptoms

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Improper sample storage or handling
  • ●Presence of inhibitors in the sample

Compare With Similar Tests

TestERCC6 Gene UV-sensitive syndrome type 1 NGS Genetic TestERCC5 Gene TestXPC Gene TestCockayne Syndrome Genetic TestNucleotide Excision Repair Gene Panel
ComparisonERCC6 Gene UV-sensitive syndrome type 1 NGS Genetic Test

Frequently Asked Questions

What is ERCC6 Gene UV-sensitive syndrome type 1?
It is a rare genetic disorder caused by mutations in the ERCC6 gene, leading to impaired DNA repair and extreme sensitivity to UV light.
What are the symptoms of UV-sensitive syndrome type 1?
Symptoms include severe sunburns, skin lesions, increased risk of skin cancer, eye problems like cataracts, and neurological issues such as hearing loss and ataxia.
How is UV-sensitive syndrome type 1 diagnosed?
Diagnosis involves physical exams, medical history, family history assessment, and genetic testing such as the ERCC6 NGS test.
What does the NGS Genetic Test for ERCC6 involve?
It uses next-generation sequencing to analyze the DNA sequence of the ERCC6 gene for mutations associated with UV-sensitive syndrome type 1.
What is the cost of the ERCC6 Gene test in India?
The cost is approximately INR 20,000, with home sample collection available across India.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do if the test result is positive?
Consult a genetic counselor or healthcare provider for interpretation, management strategies, and family planning advice.
Can this test be used for carrier testing?
Yes, it can identify carriers of ERCC6 mutations, which is useful for family members of affected individuals.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection, and potential psychological impact of results.
How accurate is the NGS Genetic Test?
NGS technology provides high accuracy for detecting mutations, but results should be interpreted by a qualified genetic specialist.
What other tests are related to UV-sensitive syndrome?
Related tests include ERCC5 Gene Test, XPC Gene Test, Cockayne Syndrome Genetic Test, and Nucleotide Excision Repair Gene Panel.
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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ 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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