Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0117
Frequently Asked Questions (FAQ's):
What conditions are associated with GLB1 mutations?
GLB1 mutations cause GM1 gangliosidosis and Morquio B syndrome (MPS IVB), both of which are lysosomal storage disorders.
Why is the GLB1 gene analyzed in this test?
The GLB1 gene encodes beta-galactosidase; mutations disrupt enzyme activity and lead to these disorders, making genetic testing essential.
How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses advanced NGS technology to accurately detect clinically relevant GLB1 gene variants.
What sample is needed for the test?
EDTA whole blood is required for analysis.
Who should consider this test?
Individuals with developmental delay, skeletal abnormalities, neurological symptoms, or a family history of lysosomal storage disorders may benefit from testing.
Is any preparation required?
No fasting or special preparation is needed before sample collection.
How long does Metropolis Healthcare take to provide results?
Results are typically available within a few working days depending on lab workflow.
How will the results help?
They assist in confirming diagnosis, planning appropriate clinical care, and providing genetic counseling for families