LYSOSOMAL ACID LIPASE DEFICIENCY (LIPA GENE) GENE PANEL BY NGS, EDTA BLOOD

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NABL Cap Accredited   
The Lysosomal Acid Lipase Deficiency (LIPA Gene) Panel by NGS is a specialized genetic test designed to detect mutations in the LIPA gene associated with Wolman disease and Cholesteryl Ester Storage Disorder (CESD). These rare metabolic disorders affect fat breakdown and can lead to liver enlargement, poor growth, and lipid abnormalities. This test is performed using an EDTA blood sample with advanced Next Generation Sequencing for high accuracy and reliable mutation identification. Metropolis Healthcare provides precise diagnostic insights to support early intervention, clinical decision-making, and family counseling

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Price: Rs. 21,000.00

Sample Type: EDTA BLOOD

Fasting Not Required


Notes: G0124

Frequently Asked Questions (FAQ's):

What is Lysosomal Acid Lipase Deficiency?
It is a rare genetic disorder caused by deficient lysosomal acid lipase enzyme activity leading to abnormal fat accumulation in organs like the liver and spleen.

Why is the LIPA gene analyzed in this test?
Mutations in the LIPA gene are responsible for Lysosomal Acid Lipase Deficiency, making genetic testing essential for confirmation.

How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses advanced Next Generation Sequencing (NGS) technology to detect clinically relevant variants in the LIPA gene.

Which sample type is required?
EDTA whole blood is required for testing.

Who should consider this test?
Individuals with unexplained liver enlargement, growth issues, abnormal lipid levels, or a family history of metabolic storage disorders may need this test.

Is any preparation needed before giving the sample?
No special preparation or fasting is necessary.

How long does Metropolis Healthcare take to deliver results?
Results are generally available within a few working days depending on laboratory processes.

How will these results be useful?
They help confirm diagnosis, guide treatment planning, and assist families with genetic counseling and risk assessment

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