Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Booking Procedure:
- Technician from Metropolis will be assigned for a home sample collection after booking confirmation.
- Sample will be collected by our technician at your address at given slot.
- You can make the payment to the technician at the time of collection
- Your sample will then be transported to the nearest collection center and will be centrifuged before sending to the lab for processing.
- Soft copy reports will be sent to your email address within 24 to 48 hours or as per defined TAT for Tests.
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