Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0116
Frequently Asked Questions (FAQ's):
What is galactosialidosis?
It is a rare inherited metabolic disorder caused by enzyme deficiencies that lead to the accumulation of complex sugars in the body.
Which gene is tested in this panel?
The CTSA gene is analyzed, as mutations in this gene are the primary cause of galactosialidosis.
How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses advanced NGS technology to detect clinically significant CTSA gene mutations with high accuracy.
What sample type is required?
An EDTA whole blood sample is needed for testing.
Who should consider this test?
Individuals with developmental delay, coarse facial features, vision problems, organ enlargement, or a family history of lysosomal storage disorders may benefit.
Is any special preparation needed?
No fasting or preparation is required prior to sample collection.
How long do results take at Metropolis Healthcare?
Results are typically available within a few working days depending on laboratory workflow.
How do the results help?
They confirm diagnosis, guide clinical care, and provide essential information for genetic counseling and family planning