Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0113
Frequently Asked Questions (FAQ's):
What is Farber lipogranulomatosis?
It is a rare lysosomal storage disorder characterized by painful joints, nodules under the skin, and breathing difficulties.
Why is the ASAH1 gene tested?
Mutations in the ASAH1 gene cause Farber disease, making genetic analysis essential for confirming the diagnosis.
How does Metropolis Healthcare conduct this test?
Metropolis Healthcare uses advanced NGS technology to accurately identify disease-causing variants in the ASAH1 gene.
What sample is required for this test?
An EDTA whole blood sample is needed.
Who should consider this test?
Infants or individuals with joint swelling, subcutaneous nodules, hoarse voice, or family history of lysosomal storage disorders may benefit.
Is any special preparation required?
No fasting or special preparation is needed.
How long do results from Metropolis Healthcare take?
Results are typically available within a few working days, depending on lab workflow.
How do the results help?
They confirm diagnosis, guide symptom management, and support genetic counseling for families at risk