Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes:G0224
Frequently Asked Questions (FAQ's):
What is the primary purpose of the Mucopolysaccharidosis Gene Panel by NGS? The main goal is to provide a molecular confirmation of a suspected Mucopolysaccharidosis (MPS) diagnosis, pinpoint the specific type of MPS, and identify the causative gene mutation for accurate clinical management.
Which conditions and genes does this comprehensive diagnostic panel cover at Metropolis Healthcare? This genetic panel analyzes multiple genes associated with all major types of Mucopolysaccharidoses (MPS I to IX) and related mucolipidoses, utilizing the advanced sequencing capabilities available through Metropolis Healthcare.
Who should consider taking the Mucopolysaccharidosis Gene Panel test? The test is recommended for individuals exhibiting clinical symptoms suggestive of MPS (such as skeletal abnormalities, coarse facial features, organ enlargement, or developmental delay), those with a positive family history, or patients with abnormal biochemical screening results.
How is the sample collected for this advanced genetic test by Metropolis Healthcare? The test requires a sample of whole blood collected in an EDTA tube. Metropolis Healthcare ensures proper sample collection by trained phlebotomists, often offering convenient home collection services.
How long does it typically take to get the results from the NGS-based panel at a Metropolis lab? Due to the complexity and specialized nature of Next-Generation Sequencing (NGS) and subsequent bioinformatic analysis, the turnaround time for this Metropolis Healthcare genetic test report is typically several weeks.
Can the results from this Metropolis Healthcare genetic analysis influence treatment and family planning? Absolutely. Identifying the specific mutation through the Metropolis Healthcare panel is vital for tailoring treatment (like enzyme replacement therapy) and for providing comprehensive genetic counseling regarding recurrence risk and prenatal diagnosis options.
What does a positive result from the Mucopolysaccharidosis Gene Panel indicate? A positive result confirms the presence of a pathogenic or likely pathogenic mutation in one of the MPS-related genes, establishing a molecular diagnosis of Mucopolysaccharidosis.
Is any special preparation or fasting required before giving the EDTA blood sample? No fasting or special preparation is required for the collection of the EDTA blood sample for the gene panel, ensuring a convenient testing process at any Metropolis Healthcare collection center.