The Glycogen Storage Disorder Gene Panel by NGS evaluates a wide range of genes responsible for glycogen synthesis, breakdown, and regulation. Using an EDTA blood sample, this test helps detect mutations that lead to energy imbalance, liver dysfunction, muscle weakness, and metabolic complications. Metropolis Healthcare utilizes advanced next-generation sequencing to ensure precise variant detection and comprehensive gene coverage. The results support accurate diagnosis, subtype classification, and individualized treatment planning.
Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Booking Procedure:
- Technician from Metropolis will be assigned for a home sample collection after booking confirmation.
- Sample will be collected by our technician at your address at given slot.
- You can make the payment to the technician at the time of collection
- Your sample will then be transported to the nearest collection center and will be centrifuged before sending to the lab for processing.
- Soft copy reports will be sent to your email address within 24 to 48 hours or as per defined TAT for Tests.
Frequently Asked Questions (FAQ's):
What does the Glycogen Storage Disorder Gene Panel include at Metropolis Healthcare?
It analyzes multiple genes associated with different types of glycogen storage disorders using high-quality next-generation sequencing.
How does Metropolis Healthcare perform this test?
Metropolis Healthcare extracts DNA from EDTA blood and sequences the targeted genes using advanced NGS platforms for accurate mutation detection.
Who should consider taking this test at Metropolis Healthcare?
Individuals with unexplained liver enlargement, fasting intolerance, muscle weakness, or a family history of glycogen storage disorders may benefit from this panel.
What sample is required for this test at Metropolis Healthcare?
A routine EDTA blood sample is sufficient for reliable DNA extraction and sequencing.
How long does Metropolis Healthcare take to deliver the results?
Turnaround time varies based on sequencing and analysis processes, with reports delivered promptly after evaluation.
Why choose Metropolis Healthcare for this genetic panel?
Metropolis Healthcare offers comprehensive gene coverage, stringent quality checks, and clinically meaningful interpretation.
Does Metropolis Healthcare provide support after test results?
Yes, expert genetic insights are included to help clinicians plan appropriate metabolic management and follow-up.
Is this test suitable for infants and children at Metropolis Healthcare?
Yes, the panel is suitable for newborns, children, and adults when glycogen storage disorders are suspected.