Price:
Rs. 19,950.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0100
Frequently Asked Questions (FAQ's):
What is Chediak-Higashi Syndrome?
It is a rare genetic disorder caused by mutations in the LYST gene, resulting in immune dysfunction, albinism, and neurological issues.
Which gene is tested in this panel?
The LYST gene is analyzed, as mutations in this gene are responsible for Chediak-Higashi syndrome.
How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses high-accuracy NGS technology to detect deletions, duplications, and point mutations in the LYST 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 recurrent infections, partial albinism, bleeding tendencies, or a family history of Chediak-Higashi syndrome.
Is any preparation required before testing?
No fasting or special preparation is needed.
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 treatment decisions, and provide valuable information for genetic counselling and family planning