The Bardet–Biedl Syndrome Gene Panel by NGS is an advanced genetic test designed to detect mutations associated with Bardet–Biedl Syndrome, a multisystem disorder affecting vision, kidneys, development, and metabolism. Metropolis Healthcare performs this comprehensive analysis using next-generation sequencing to evaluate multiple BBS-related genes with high precision. This test helps confirm diagnosis, guide clinical management, and support genetic counseling for families. It is especially valuable when symptoms suggest a hereditary ciliopathy.
Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes:G0168
Frequently Asked Questions (FAQ's):
What does this test include at Metropolis Healthcare?
It includes NGS-based sequencing of all major genes known to cause Bardet–Biedl Syndrome.
How does Metropolis Healthcare perform this test?
DNA extracted from an EDTA blood sample is analyzed using high-depth next-generation sequencing to detect pathogenic variants.
Who should take this test at Metropolis Healthcare?
Individuals with symptoms such as retinal degeneration, obesity, kidney abnormalities, polydactyly, or suspected ciliopathy.
What sample is required at Metropolis Healthcare?
A routine EDTA blood sample is needed for DNA extraction and sequencing.
How does this test help clinicians at Metropolis Healthcare?
It confirms the genetic cause, clarifies subtype classification, and supports prognosis and treatment planning.
Is any preparation needed before giving the sample at Metropolis Healthcare?
No fasting or special preparation is required.
How long does the test take at Metropolis Healthcare?
Turnaround time typically ranges from several days to a few weeks due to detailed gene analysis.
When will I receive the report from Metropolis Healthcare?
Reports are shared as per the molecular diagnostics schedule along with expert genetic interpretation.