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NIEMANN - PICK DISEASE GENE PANEL BY NGS, EDTA BLOOD

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NABL Cap Accredited 
The Niemann–Pick Disease Gene Panel by NGS at Metropolis Healthcare is a specialized genetic test designed to detect mutations associated with various types of Niemann–Pick disease. Using advanced Next-Generation Sequencing (NGS) technology, this panel analyzes key genes responsible for lipid metabolism abnormalities that affect multiple organs. Metropolis Healthcare ensures high-depth sequencing, accurate variant identification, and expert interpretation to support early diagnosis, prognosis, and management. This test is valuable for individuals with suspected metabolic disorders, neurodegeneration, or unexplained hepatosplenomegaly.

  • 17 Crores+ Samples Processed
  • World Class Technology Labs
  • 25+ Years of Trust & Experience
  • Free Home Collection

Price: Rs. 19,950.00

Sample Type: EDTA BLOOD

Fasting Not Required


Frequently Asked Questions (FAQ's):

What does the Niemann–Pick Disease Gene Panel include at Metropolis Healthcare?
It screens multiple genes associated with Niemann–Pick types A, B, and C, helping identify pathogenic mutations responsible for lipid storage disorders.

How does Metropolis Healthcare perform this NGS-based test?
Metropolis Healthcare uses high-quality NGS platforms, strict quality checks, and expert genomic analysis to ensure precise and reliable variant detection.

Who should consider taking this genetic panel at Metropolis Healthcare?
Individuals with symptoms like neuroregression, developmental delays, hepatosplenomegaly, metabolic abnormalities, or a family history of Niemann–Pick disease may benefit.

What sample type is required for this test?
An EDTA blood sample is collected to extract high-quality DNA for accurate sequencing at Metropolis Healthcare.

How long does it take to receive results from Metropolis Healthcare?
Genetic reports typically take longer than routine tests, and Metropolis Healthcare provides a detailed result within the standard NGS turnaround time.

Does this test help guide treatment or future planning?
Yes, identifying mutations can support clinical decisions, monitor progression, and assist in prognosis and family planning.

Is genetic counselling recommended after receiving results from Metropolis Healthcare?
Yes, genetic counselling helps patients and families understand the test findings and their clinical significance.

Can this test detect all forms of Niemann–Pick disease?
It covers the major genes known to cause the disorder, and Metropolis Healthcare offers expert interpretation based on the latest scientific evidence.

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