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ERCC4 Gene XFE progeroid syndrome NGS Genetic Test

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ERCC4 Gene XFE progeroid syndrome NGS Genetic Test

Also known as: Cockayne syndrome type II, XFE Progeroid Syndrome

ERCC4 Gene XFE progeroid syndrome 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.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 3, 2026

Overview

The purpose of this test is to identify mutations in the ERCC4 gene that cause XFE progeroid syndrome, enabling accurate diagnosis, genetic counseling, and informed management decisions.

Test Code
2823
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

Genetic counseling session recommended. Provide clinical history and family pedigree.

Method: Blood Draw or Saliva Collection

Step 2

Laboratory Analysis

Sample collection via blood draw or saliva.

Step 3

Report Delivery

Sample sent to lab for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended. Provide clinical history and family pedigree.
2
During the Test:Sample collection via blood draw or saliva.
3
After the Test:Sample sent to lab for analysis.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the ERCC4 gene that cause XFE progeroid syndrome, enabling accurate diagnosis, genetic counseling, and informed management decisions.

How to Prepare

  • Fast not required
  • Use sterile collection kit
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw or Saliva Collection
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the ERCC4 gene.
Positive: Pathogenic mutation detected, consistent with XFE progeroid syndrome
Negative: No pathogenic mutations detected
Variant of uncertain significance: Further testing may be needed
⚠️ When to Consult a Doctor:

If symptoms of XFE progeroid syndrome are present or if there is a family history, consult a geneticist or pediatrician.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require genetic counseling
  • ⚠Not for prenatal diagnosis unless specified

Risks & Considerations

  • ●Minor bruising at collection site
  • ●Infection risk (very low)

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Technical errors

Frequently Asked Questions

What is XFE progeroid syndrome?
XFE progeroid syndrome is a rare genetic disorder that causes accelerated aging and severe symptoms from early childhood, also known as Cockayne syndrome type II.
What causes XFE progeroid syndrome?
It is caused by mutations in the ERCC4 gene, which is involved in DNA repair.
What are the symptoms of XFE progeroid syndrome?
Symptoms include severe growth retardation, developmental delays, microcephaly, premature aging, skin photosensitivity, eye abnormalities, hearing loss, and neurological abnormalities.
How is XFE progeroid syndrome diagnosed?
Diagnosis is based on clinical features and confirmed by genetic testing, such as the ERCC4 Gene NGS Genetic Test.
What is the ERCC4 gene?
The ERCC4 gene provides instructions for making a protein involved in DNA repair, and mutations can lead to XFE progeroid syndrome.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a technology that allows rapid and accurate analysis of multiple genes to detect genetic mutations.
How accurate is the ERCC4 Gene NGS Genetic Test?
The test uses advanced NGS technology to detect mutations in the ERCC4 gene with high accuracy.
What sample is required for the test?
The test can be performed using a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The cost of the ERCC4 Gene NGS Genetic Test is INR 20,000, which includes sample collection, sequencing, and interpretation.
How can I interpret the test results?
Results should be interpreted by a genetic counselor or healthcare provider, who can explain the findings and implications.
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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