The Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel by NGS is a comprehensive molecular test designed to detect genetic mutations responsible for these neuromuscular disorders. Metropolis Healthcare performs this analysis using advanced next-generation sequencing to evaluate multiple genes involved in muscle weakness, joint contractures, and neuromuscular transmission defects. This test helps confirm diagnosis, guide personalised management, and support genetic counseling. It is particularly useful in patients presenting with early-onset muscle weakness or congenital contractures.
Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes:G0167
Frequently Asked Questions (FAQ's):
What does this test include at Metropolis Healthcare?
It includes NGS-based sequencing of genes linked to arthrogryposis and congenital myasthenic syndromes.
How does Metropolis Healthcare perform this test?
DNA extracted from an EDTA blood sample is sequenced using high-precision next-generation sequencing technology.
Who should take this test at Metropolis Healthcare?
Patients with unexplained muscle weakness, congenital joint contractures, delayed motor milestones, or suspected congenital myasthenic disorders.
What sample is required at Metropolis Healthcare?
A standard EDTA blood sample is needed for DNA extraction and molecular analysis.
How does this test help clinicians at Metropolis Healthcare?
It confirms the underlying genetic cause, supports prognosis, and guides therapy decisions and family counseling.
Is any preparation required before giving the sample at Metropolis Healthcare?
No fasting or special preparation is needed for this test.
How long does the test take at Metropolis Healthcare?
Because of the complexity of sequencing, results typically take several days to a few weeks.
When will I receive the report from Metropolis Healthcare?
Reports are provided as per Metropolis Healthcare’s molecular diagnostics timeline, along with expert interpretation.