ERCC8 Gene Cockayne syndrome type A NGS Genetic Test
Short Name: ERCC8 CS Type A NGS Test
Also known as: Cockayne Syndrome Type A Genetic Test, ERCC8 Gene Test, Cockayne Syndrome Type A DNA Test
ERCC8 Gene Cockayne syndrome type A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), DNA Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. 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
The purpose of the ERCC8 Gene Cockayne Syndrome Type A NGS Genetic Test is to confirm a diagnosis of Cockayne Syndrome Type A by detecting pathogenic mutations in the ERCC8 gene. This helps in differentiating it from other similar disorders, guiding treatment strategies, and providing genetic counseling for affected families.
- Test Code
- 5719
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), DNA Sequencing
Sample Collection
No specific preparation required. Provide clinical history and undergo genetic counseling.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture or using FTA card for one drop of blood.
Report Delivery
Apply pressure to the puncture site. Store samples as per instructions.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ERCC8 Gene Cockayne Syndrome Type A NGS Genetic Test is to confirm a diagnosis of Cockayne Syndrome Type A by detecting pathogenic mutations in the ERCC8 gene. This helps in differentiating it from other similar disorders, guiding treatment strategies, and providing genetic counseling for affected families.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection tubes
- Label samples correctly
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of Cockayne Syndrome Type A is crucial for initiating supportive care and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling or missing documentation
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Cockayne Syndrome Type A. Genetic counseling and management recommended.
Negative for pathogenic variant
No mutations detected in ERCC8 gene. Consider other genetic or clinical evaluations if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a geneticist or pediatric neurologist immediately if test results are positive or if clinical symptoms of Cockayne syndrome are present.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or intronic variants
- ⚠Results require clinical correlation and genetic counseling
- ⚠Turnaround time of 3-4 weeks
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic diagnosis
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Recent blood transfusions
- ●Improper sample storage or handling
Compare With Similar Tests
| Test | ERCC8 Gene Cockayne syndrome type A NGS Genetic Test | ERCC6 Gene Test for Cockayne Syndrome Type B | Whole Exome Sequencing | Chromosomal Microarray | Prenatal Genetic Testing |
|---|---|---|---|---|---|
| Comparison | ERCC8 Gene Cockayne syndrome type A NGS Genetic Test |
Frequently Asked Questions
What is the ERCC8 Gene Cockayne Syndrome Type A NGS Genetic Test?
What are the symptoms of Cockayne Syndrome Type A?
How is the test performed?
What is the cost of the test?
How long does it take to get results?
Is home sample collection available?
Who should consider this test?
What does a positive result mean?
Is genetic counseling recommended?
Are there any risks associated with the test?
Can the test be used for prenatal diagnosis?
Why choose DNA Labs India for this test?
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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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✓ 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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