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GTR Home > Tests > Methylmalonic Acidemia, cblB Type

Overview

Test name

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Methylmalonic Acidemia, cblB Type

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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Not provided

Specimen source

Saliva
Peripheral (whole) blood
Isolated DNA

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

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
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Propionic and Methylmalonic Acidemia: C3 Elevated, 2022

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