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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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How to order

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Order URL Help: http://www.ggc.org/diagnostic/tests-costs/test-finder/ngs-lysosomal-storage-disease-panel.html

Specimen source

Cell culture
Cord blood
Fibroblasts
Fresh tissue
Isolated DNA
Peripheral (whole) blood
Saliva
Skin

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

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Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics ACT SHEET, Newborn Screening ACT Sheet- Pompe Disease (Glycogen Storage Disease type II), 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Pompe disease: acid alpha-glucosidase deficiency, 2022

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.