Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0127
Frequently Asked Questions (FAQ's):
What is Menkes Disease?
It is a genetic disorder that affects copper absorption and distribution in the body, leading to neurological and connective tissue problems.
Why is the ATP7A gene tested?
Mutations in the ATP7A gene are responsible for Menkes disease and related copper transport disorders.
How is this test performed?
Metropolis Healthcare performs this test using Next Generation Sequencing (NGS) to accurately detect gene variants.
Which sample type is required?
EDTA whole blood is required for testing.
Who should consider this test?
Infants with symptoms like seizures, poor growth, weak muscle tone, brittle hair, or a family history of Menkes disease may be advised to undergo testing.
Is any special preparation needed?
No specific preparation or fasting is required.
How long does it take to get results?
Reports are typically available within a few working days depending on laboratory processes.
How will the results help?
They support clinical management, early initiation of copper therapy when appropriate, and informed genetic counseling for families