Price:
Rs. 19,950.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0093
Frequently Asked Questions (FAQ's):
What is Ataxia Telangiectasia?
It is a rare genetic disorder caused by mutations in the ATM gene, leading to progressive ataxia, telangiectasias, and immune dysfunction.
Which gene is tested in this panel?
The ATM gene is analyzed, as mutations in this gene are the primary cause of Ataxia Telangiectasia.
How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses high-precision NGS technology to detect point mutations, deletions, and duplications in the ATM gene.
What sample type is required?
An EDTA whole blood sample is needed for DNA extraction and sequencing.
Who should consider this test?
Individuals with progressive ataxia, recurrent infections, telangiectasias, or a family history of Ataxia Telangiectasia.
Is any preparation needed before testing?
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 workflow.
How will the results help?
They confirm diagnosis, guide clinical management, and provide information for genetic counselling and family planning