This specialized NGS-based panel analyzes genes associated with congenital stationary night blindness (CSNB), a hereditary condition that affects the retina’s ability to adapt to low-light environments. Metropolis Healthcare uses high-depth sequencing to detect pathogenic variants linked to both complete and incomplete forms of CSNB. The test supports accurate diagnosis, helps differentiate between retinal disorders, and guides appropriate clinical management. 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:G0182
Frequently Asked Questions (FAQ's):
What type of sample is required for this CSNB panel at Metropolis Healthcare?
A blood sample collected in an EDTA tube is needed for NGS analysis.
How can this test help in clinical management?
It confirms the genetic cause, helps differentiate CSNB from progressive retinal diseases, and guides counseling.
How long does Metropolis Healthcare take to deliver results?
Reports are typically available within 2–4 weeks based on sequencing complexity.
Can this panel detect carriers of CSNB-related mutations?
Yes, the test can identify carriers, which is useful for family planning and risk assessment.
Is genetic counseling recommended after this test at Metropolis Healthcare?
Yes, counseling helps interpret results and understand inheritance patterns and prognosis.