GTR Home > Tests > Lysosomal Storage Disease Sequencing Panel

Overview

Test order codeHelp: Lysosomal Storage Disease Panel

Test name

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Lysosomal Storage Disease Sequencing Panel

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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74 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

75 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Order URL Help: https://www.ggc.org/test-finder-item/lysosomal-storage-disease-74-gene-sequencing-panel

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

Practice guidelines

  • ESC, 2014
    2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
  • ACMG, 2006
    Pompe disease diagnosis and management guideline

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