Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0115
Frequently Asked Questions (FAQ's):
What is fucosidosis?
Fucosidosis is a rare inherited metabolic disorder caused by deficient alpha-L-fucosidase enzyme activity due to FUCA1 gene mutations.
Why is the FUCA1 gene tested?
Mutations in the FUCA1 gene directly cause fucosidosis, making genetic testing essential for confirmation.
How does Metropolis Healthcare conduct this test?
Metropolis Healthcare uses advanced NGS technology to detect clinically significant FUCA1 variants with high accuracy.
What type of sample is required?
An EDTA whole blood sample is required for analysis.
Who should consider this test?
Individuals with developmental delay, recurrent infections, skeletal abnormalities, or family history of lysosomal storage disorders may benefit.
Is any preparation needed before sample collection?
No fasting or special preparation is required.
How long do results take at Metropolis Healthcare?
Results are typically available within a few working days depending on laboratory processes.
How can the results help?
They confirm diagnosis, support clinical decision-making, and provide valuable information for genetic counseling