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GTR Home > Tests > Lysosomal/Peroxisomal D/O Scrn, BS

Overview

Test order codeHelp: PLSD

Test name

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Lysosomal/Peroxisomal D/O Scrn, BS (PLSD)

Purpose of the test

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This is a clinical test intended for Help: Screening

Condition

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How to order

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https://www.mayocliniclabs.com/test-catalog/overview/89678#Specimen
Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Dried blood spot (DBS) card

Methodology

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Biochemical Genetics
AAnalyte
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Clinical validity

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Not provided

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased ß-glucocerebrosidase, Gaucher disease, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Gaucher Disease; Decreased beta-glucocerebrosidase activity, 2022
  • ACMG ACT, 2011
    American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

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