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GTR Home > Tests > Methylmalonic Aciduria Gene Panel

Overview

Test order codeHelp: MMAGP

Test name

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Methylmalonic Aciduria Gene Panel (MMAGP)

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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https://www.mayocliniclabs.com/test-catalog/Specimen/608021
Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NovaSeq6000

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, Order code: FMTT, comments

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C3 Acylcarnitine, Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA), 2022

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