Price:
Rs. 19,950.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0097
Frequently Asked Questions (FAQ's):
What is Canavan Disease?
Canavan Disease is a rare genetic disorder caused by mutations in the ASPA gene, leading to progressive neurodegeneration and developmental delay.
Which gene is tested in this panel?
The ASPA gene is analyzed, as mutations in this gene are the primary cause of Canavan Disease.
How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses high-accuracy NGS technology to detect point mutations, deletions, and duplications in the ASPA gene.
What sample type is required?
An EDTA whole blood sample is needed for DNA extraction and sequencing.
Who should consider this test?
Children with developmental delay, hypotonia, macrocephaly, or a family history of Canavan Disease may benefit from this test.
Is any preparation required before testing?
No fasting or special preparation is needed.
How long do results take at Metropolis Healthcare?
Results are usually available within a few working days depending on laboratory workflow.
How will the results help?
They confirm diagnosis, guide clinical management, and provide information for genetic counselling and family planning