Price:
Rs. 19,950.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0091
Frequently Asked Questions (FAQ's):
What is Alström Syndrome?
Alström Syndrome is a rare genetic disorder caused by mutations in the ALMS1 gene, leading to vision and hearing loss, obesity, diabetes, and organ involvement.
Which gene is tested in this panel?
The ALMS1 gene is analyzed, as mutations in this gene are the primary cause of Alström Syndrome.
How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses high-precision NGS technology to detect point mutations, deletions, and duplications in the ALMS1 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 vision or hearing loss, obesity, diabetes, cardiomyopathy, or a family history of Alström Syndrome.
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 management of multisystem symptoms, and provide information for genetic counselling and family planning