The Skeletal Dysplasia Gene Panel uses advanced Next-Generation Sequencing (NGS) to identify mutations associated with a wide range of hereditary skeletal disorders. Metropolis Healthcare analyzes an EDTA blood sample to detect genetic abnormalities that affect bone growth, structure, and development. This test helps clinicians diagnose conditions such as dwarfism, bone fragility syndromes, and cartilage disorders. It also supports personalized management, prognosis, and genetic counseling for affected families.
Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes:G0252
Frequently Asked Questions (FAQ's):
What does the Skeletal Dysplasia Gene Panel include?
This panel at Metropolis Healthcare includes NGS-based analysis of multiple genes involved in bone and cartilage development.
How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses high-depth sequencing to detect mutations such as single-nucleotide variants, insertions, deletions, and other clinically relevant changes.
Who should take this test?
Individuals with unexplained short stature, bone deformities, frequent fractures, or clinical suspicion of skeletal dysplasia should consider this test at Metropolis Healthcare.
Why is this test important?
It helps confirm a genetic diagnosis, enabling better clinical management and long-term planning through Metropolis Healthcare’s advanced genetic testing services.
What sample is required for the test?
An EDTA blood sample is needed for DNA extraction and sequencing by Metropolis Healthcare.
Can this test help in treatment planning?
Yes, the results provided by Metropolis Healthcare assist clinicians in choosing appropriate interventions and monitoring disease progression.
Is this test suitable for children?
Yes, Metropolis Healthcare conducts this test for infants, children, and adults with suspected skeletal abnormalities.
Do results support genetic counseling?
Absolutely. Metropolis Healthcare offers detailed reports that help families understand inheritance patterns and recurrence risks