This advanced NGS-based panel analyzes genes associated with Cockayne Syndrome, a rare hereditary disorder affecting growth, neurological development, and DNA repair. Metropolis Healthcare performs comprehensive sequencing to detect pathogenic variants responsible for different clinical subtypes. The test aids in confirming diagnosis, guiding care strategies, and supporting genetic counseling. A blood sample collected in an EDTA vial is required for analysis.
Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes:G0176
Frequently Asked Questions (FAQ's):
What does the Cockayne Syndrome Gene Panel include at Metropolis Healthcare?
It includes targeted NGS analysis of genes known to cause Cockayne Syndrome and related DNA repair disorders.
How does Metropolis Healthcare conduct this genetic test?
Metropolis Healthcare uses high-depth Next-Generation Sequencing with expert bioinformatic evaluation for accurate variant detection.
Who should consider taking this test at Metropolis Healthcare?
Children or adults with developmental delay, growth failure, photosensitivity, or suspected DNA repair disorders may benefit.
What sample is needed for this test at Metropolis Healthcare?
A blood sample collected in an EDTA tube is required.
How does this test help in clinical management?
It confirms the genetic diagnosis, assists in tailoring supportive care, and informs prognosis.
How long does Metropolis Healthcare take to report the results?
Results typically take 2–4 weeks depending on sequencing complexity.
Can this panel identify carriers of Cockayne Syndrome?
Yes, the test can detect carriers, which is useful for family planning and genetic counseling.
Is genetic counseling recommended after testing at Metropolis Healthcare?
Yes, counseling helps interpret findings and understand inheritance patterns.