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ERCC4 Gene XFE progeroid syndrome NGS Genetic Test

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ERCC4 Gene XFE progeroid syndrome NGS Genetic Test

Short Name: ERCC4 Gene XFE Progeroid Syndrome Test

Also known as: XFE Progeroid Syndrome, ERCC4-Related Progeroid Syndrome, Progeroid Syndrome due to ERCC4 Mutation

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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the ERCC4 Gene XFE Progeroid Syndrome NGS Genetic Test is to identify pathogenic mutations in the ERCC4 gene, which is responsible for DNA repair. This test aids in the definitive diagnosis of XFE Progeroid Syndrome, enabling appropriate medical management and genetic counseling for affected individuals and their families.

Test Code
2488
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 lab about any medications or health conditions.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm, or a drop of blood on an FTA card may be used.

Step 3

Report Delivery

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

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test implications and provide family history.
2
During the Test:The test involves sequencing the ERCC4 gene using NGS technology from the provided sample.
3
After the Test:Receive results and discuss with a healthcare provider for management options.

About This Test

Who Should Get This Test

The purpose of the ERCC4 Gene XFE Progeroid Syndrome NGS Genetic Test is to identify pathogenic mutations in the ERCC4 gene, which is responsible for DNA repair. This test aids in the definitive diagnosis of XFE Progeroid Syndrome, enabling appropriate medical management and genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"Early detection through genetic testing is essential for timely management and improving patient outcomes in XFE Progeroid Syndrome."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS analysis
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood: Store at 2-8°C for up to 24 hours
FTA card: Store at room temperature
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted sample
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the ERCC4 gene. A positive result confirms XFE Progeroid Syndrome, while a negative result may require further testing if symptoms persist.
📊

Positive

Pathogenic mutation detected, confirming diagnosis

📊

Negative

No pathogenic mutation detected, but clinical correlation is advised

📊

Variant of Uncertain Significance

Genetic variant found, but significance unclear; further testing may be needed

⚠️ When to Consult a Doctor:

If you or a family member exhibit symptoms of premature aging, bone abnormalities, or other signs of XFE Progeroid Syndrome, consult a geneticist or dermatologist for evaluation.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a screening test for general population

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample handling

Compare With Similar Tests

TestERCC4 Gene XFE progeroid syndrome NGS Genetic TestERCC1 Gene TestERCC2 Gene TestFull Exome SequencingTargeted Gene Panel
ComparisonERCC4 Gene XFE progeroid syndrome NGS Genetic TestTests for mutations in ERCC1 gene, related to DNA repair but different syndromeTests for ERCC2 gene mutations, associated with other progeroid conditionsComprehensive genetic test that may include ERCC4 but is broaderPanel of genes related to progeroid syndromes, including ERCC4

Frequently Asked Questions

What is ERCC4 Gene XFE Progeroid Syndrome?
ERCC4 Gene XFE Progeroid Syndrome is a rare genetic disorder caused by mutations in the ERCC4 gene, leading to premature aging, bone abnormalities, and other health issues due to impaired DNA repair.
What are the symptoms of XFE Progeroid Syndrome?
Symptoms include premature aging, short stature, abnormal bone development, joint stiffness and pain, loss of vision and hearing, high-pitched voice, wrinkled skin, and delayed puberty.
How is XFE Progeroid Syndrome diagnosed?
Diagnosis involves physical examination, genetic testing to identify ERCC4 gene mutations, and imaging tests like X-rays or MRI to assess bone and joint abnormalities.
What is the cost of the ERCC4 Gene NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, which includes sample collection, genetic analysis, and report generation.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India for this test.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result confirms the presence of a pathogenic mutation in the ERCC4 gene, diagnosing XFE Progeroid Syndrome and guiding management strategies.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; prenatal testing may require specialized genetic counseling and different methodologies.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but genetic diagnosis may have psychological implications; genetic counseling is provided.
How accurate is the NGS Genetic Test?
The NGS Genetic Test is highly accurate and reliable for detecting mutations in the ERCC4 gene, with NABL accreditation and ISO certification ensuring quality.
What should I do if I have a family history of XFE Progeroid Syndrome?
Consult a geneticist for evaluation and consider genetic testing to confirm diagnosis and assess risk for family members.
Is genetic counseling provided with the test?
Yes, DNA Labs India includes a genetic counseling session to help interpret results and understand implications for patients and families.
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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