ERCC6 Gene Cockayne syndrome type B NGS Genetic Test
Also known as: CSB gene test, Cockayne syndrome B genetic test, ERCC6 mutation analysis
ERCC6 Gene Cockayne syndrome type B 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 the ERCC6 Gene Cockayne Syndrome Type B NGS Genetic Test is to identify mutations in the ERCC6 gene responsible for Cockayne syndrome type B. This test aids in confirming diagnosis, differentiating from other conditions, informing prognosis, and enabling genetic counseling for families. It supports personalized medical management and early intervention strategies.
- Test Code
- 5721
- 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
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Cockayne syndrome or related disorders.
Method: Blood draw
Laboratory Analysis
Standard blood collection procedure by a trained phlebotomist. For FTA card, a drop of blood is applied.
Report Delivery
Sample is labeled, stored at ambient room temperature, and transported to the laboratory for processing.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ERCC6 Gene Cockayne Syndrome Type B NGS Genetic Test is to identify mutations in the ERCC6 gene responsible for Cockayne syndrome type B. This test aids in confirming diagnosis, differentiating from other conditions, informing prognosis, and enabling genetic counseling for families. It supports personalized medical management and early intervention strategies.
How to Prepare
- Ensure proper patient identification
- Use sterile collection equipment
- For FTA card, apply one drop of blood and let it dry
- Store samples at room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Cockayne syndrome is crucial for early diagnosis and management. The ERCC6 gene test helps identify mutations, enabling personalized care and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrectly labeled samples
Understanding Your Results
Pathogenic mutation detected
Confirms diagnosis of Cockayne syndrome type B due to ERCC6 gene mutation. Genetic counseling recommended.
No pathogenic mutation detected
ERCC6 gene mutations not found. Consider other genetic tests or clinical evaluation for alternative diagnoses.
Variant of uncertain significance
Further testing or family studies may be needed to determine clinical relevance.
Consult a geneticist or pediatrician if symptoms of Cockayne syndrome are present, such as delayed growth, neurological issues, or photosensitivity, especially with a family history of genetic disorders.
Limitations
- ⚠May not detect all possible mutations in the ERCC6 gene
- ⚠Cannot rule out other genetic causes of similar symptoms
- ⚠Results require clinical correlation for diagnosis
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Poor sample quality or contamination
- ●Recent blood transfusions
- ●Degraded DNA in extracted samples
Frequently Asked Questions
What is Cockayne syndrome type B?
How is the ERCC6 gene test performed?
What is the cost of the ERCC6 Gene NGS Genetic Test?
Who should consider this test?
How long does it take to get results?
Is home sample collection available?
What does a positive result mean?
Can this test detect all mutations?
Is genetic counseling provided?
What are the risks of the test?
How do I prepare for the test?
Is the test covered by insurance?
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₹20,000Reference 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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