GAUCHER DISEASE GENE PANEL BY NGS, EDTA BLOOD

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NABL Cap Accredited    
The Gaucher Disease Gene Panel by NGS analyzes the GBA gene to detect mutations responsible for Gaucher disease, a lysosomal storage disorder. Metropolis Healthcare performs this test using advanced next-generation sequencing to accurately identify both common and rare pathogenic variants. It is useful for patients with unexplained anemia, hepatosplenomegaly, bone abnormalities, or a family history of Gaucher disease. Early genetic diagnosis supports timely treatment, monitoring, and genetic counseling

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Price: Rs. 19,950.00

Sample Type: EDTA Blood

Fasting Not Required


Notes: G0340

Frequently Asked Questions (FAQ's):

What does the Gaucher Disease Gene Panel detect?
It identifies mutations in the GBA gene associated with Gaucher disease.

Who should take this test?
Patients with hepatosplenomegaly, anemia, bone symptoms, or a family history of Gaucher disease.

What sample is required?
EDTA blood is used for next-generation sequencing analysis.

How does Metropolis Healthcare perform this test?
Metropolis employs high-precision NGS technology for accurate detection of genetic variants.

Can this test guide treatment decisions?
Yes, results help clinicians plan enzyme replacement therapy or other management strategies.

Is genetic counseling recommended?
Yes, it helps family members understand carrier status and inheritance patterns.

How long does it take to get results from Metropolis Healthcare?
Results are generally available within a few weeks, depending on the analysis complexity.

Why is early genetic diagnosis important?
It enables timely intervention, monitoring, and improved outcomes for affected individuals

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