The Seckel Syndrome Gene Panel uses advanced Next-Generation Sequencing (NGS) to detect mutations associated with Seckel syndrome, a rare genetic condition characterized by growth delays and developmental abnormalities. Metropolis Healthcare performs a detailed analysis of an EDTA blood sample to identify pathogenic variants linked to the disorder. This test supports early diagnosis, prognosis, and informed medical management. It also provides essential information for families regarding inheritance patterns and genetic counseling
Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes:G0249
Frequently Asked Questions (FAQ's):
What does the Seckel Syndrome Gene Panel include?
This panel at Metropolis Healthcare includes NGS-based evaluation of genes known to cause Seckel syndrome and related growth-restriction disorders.
How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses high-quality sequencing platforms to detect disease-causing mutations, including single-nucleotide variants and small insertions/deletions.
Who should take this test?
Individuals, especially children, with severe growth restriction, microcephaly, or clinical suspicion of Seckel syndrome may benefit from this test at Metropolis Healthcare.
Why is this test important?
The test helps confirm a genetic diagnosis, guiding long-term medical care and family planning through Metropolis Healthcare’s diagnostic expertise.
What sample is required for the test?
An EDTA blood sample is collected for DNA extraction and sequencing by Metropolis Healthcare.
Can this test help in understanding prognosis?
Yes, the results from Metropolis Healthcare assist clinicians in predicting disease outcomes and customizing patient care.
Is this test useful for genetic counseling?
Absolutely. Metropolis Healthcare provides insights into inheritance patterns, helping families understand recurrence risks.
How long does the test typically take?
Metropolis Healthcare generally provides results within a clinically appropriate turnaround time based on sequencing and analysis requirements