ERCC1 Gene Cerebrooculofacioskeletal syndrome type 4 NGS Genetic Test
Also known as: COFS4, ERCC1-related syndrome
ERCC1 Gene Cerebrooculofacioskeletal syndrome type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose Cerebrooculofacioskeletal syndrome type 4 (COFS4) by detecting pathogenic mutations in the ERCC1 gene using Next Generation Sequencing (NGS). It helps confirm clinical suspicion, guide management, and provide genetic counseling for affected families.
- Test Code
- 5707
- 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
- NGS (Next Generation Sequencing)
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected with COFS4 or related disorders.
Laboratory Analysis
Standard blood draw or collection of extracted DNA or one drop of blood on an FTA card.
Report Delivery
Apply pressure to the collection site to prevent bleeding. Monitor for any signs of infection or bruising.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Cerebrooculofacioskeletal syndrome type 4 (COFS4) by detecting pathogenic mutations in the ERCC1 gene using Next Generation Sequencing (NGS). It helps confirm clinical suspicion, guide management, and provide genetic counseling for affected families.
How to Prepare
- Use blood, extracted DNA, or FTA card sample
- Ensure proper labeling and handling
- Store at ambient room temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of COFS4; genetic counseling and management recommended.
Negative for pathogenic variant
COFS4 unlikely; consider other diagnoses if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
If symptoms such as intellectual disability, seizures, vision problems, or skeletal abnormalities are present, or if there is a family history of COFS4 or similar genetic disorders.
Risks & Considerations
- ●Minor bruising at collection site
- ●Rare risk of infection
Frequently Asked Questions
What is Cerebrooculofacioskeletal syndrome type 4 (COFS4)?
What causes COFS4?
What are the symptoms of COFS4?
How is COFS4 diagnosed?
What is the ERCC1 Gene NGS Genetic Test?
What is the cost of this test?
Is home sample collection available?
How long does it take to get results?
Is this test covered by insurance?
What should I do if the test is positive?
Can COFS4 be prevented?
How do I book this test?
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