Price:
Rs. 19,950.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0123
Frequently Asked Questions (FAQ's):
What is Krabbe disease?
Krabbe disease is a rare genetic disorder that affects the central nervous system and leads to progressive neurological deterioration.
Why is the GALC gene tested in Krabbe disease?
Mutations in the GALC gene cause enzyme deficiency that results in Krabbe disease, making this gene essential for diagnostic confirmation.
How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses advanced NGS technology to analyze the GALC gene and identify clinically relevant mutations.
Which sample type is required for this test?
An EDTA whole blood sample is required.
Who should undergo this test?
Infants with developmental delay, muscle stiffness, seizures, or individuals with a family history of Krabbe disease should consider testing.
Is any special preparation needed before sample collection?
No fasting or special preparation is required.
How long does it take to receive results from Metropolis Healthcare?
Results are typically available within a few working days depending on laboratory workflow.
How do the results help patients and families?
They support accurate diagnosis, guide management decisions, and enable genetic counseling for recurrence risk evaluation