ERCC6 Gene Cerebrooculofacioskeletal syndrome type 1 NGS Genetic Test
Short Name: ERCC6 COFS1 NGS Test
Also known as: COFS syndrome type 1
ERCC6 Gene Cerebrooculofacioskeletal 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the ERCC6 gene that cause Cerebrooculofacioskeletal syndrome type 1, enabling accurate diagnosis, genetic counseling, and management planning.
- Test Code
- 5708
- 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)
Sample Collection
Provide detailed clinical history and undergo genetic counseling to draw a pedigree chart.
Method: Blood sample or Saliva sample
Laboratory Analysis
Sample collection via blood draw or saliva swab.
Report Delivery
Sample sent to lab for NGS analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the ERCC6 gene that cause Cerebrooculofacioskeletal syndrome type 1, enabling accurate diagnosis, genetic counseling, and management planning.
How to Prepare
- Use sterile equipment
- Label samples correctly
- Follow kit instructions if provided
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is crucial for accurate diagnosis and personalized care in rare syndromes like COFS type 1."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
- Incorrect labeling
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of COFS syndrome type 1
No pathogenic variant detected
COFS syndrome type 1 unlikely, but clinical correlation needed
If symptoms of COFS syndrome are present or if there is a family history of the disorder.
Limitations
- ⚠May not detect all types of mutations
- ⚠Results require genetic counseling
- ⚠Cannot predict disease severity
Risks & Considerations
- ●Minimal risk from blood draw
- ●Psychological impact of results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Incorrect sample type
Compare With Similar Tests
| Test | ERCC6 Gene Cerebrooculofacioskeletal syndrome type 1 NGS Genetic Test | Whole Exome Sequencing | Single Gene Sequencing |
|---|---|---|---|
| Comparison | ERCC6 Gene Cerebrooculofacioskeletal syndrome type 1 NGS Genetic Test |
Frequently Asked Questions
What is ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1?
What are the symptoms of this syndrome?
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Is home sample collection available?
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Can this test be used for prenatal diagnosis?
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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.
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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