Price:
Rs. 21,000.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0112
Frequently Asked Questions (FAQ's):
What is the Fanconi Bickel Syndrome (SLC2A2) Gene Panel?
This test detects mutations in the SLC2A2 gene linked to Fanconi Bickel Syndrome using next-generation sequencing at Metropolis Healthcare.
Why is this test recommended?
It helps confirm the genetic cause of symptoms like hepatomegaly, growth failure, and renal tubular dysfunction.
What sample is needed for this test?
EDTA blood is required for DNA extraction and sequencing.
How is the analysis performed?
Metropolis Healthcare uses high-precision NGS technology to identify pathogenic variants in the SLC2A2 gene.
Who should undergo this test?
Infants or children showing signs of glucose/galactose metabolism issues, kidney tubular problems, or suspected glycogen storage disorders.
How long does it take to receive the report?
Reports are usually available within the standard NGS turnaround time at Metropolis Healthcare.
Does this test help in treatment decisions?
Yes, identifying the mutation assists clinicians in planning dietary modifications and long-term metabolic management.
Is genetic counselling required?
Genetic counselling is recommended to understand results, inheritance patterns, and family planning options