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GTR Home > Tests > Medium Chain Acyl-CoA Dehydrogenase (MCAD) Mutation Analysis

Overview

Test order codeHelp: 11176

Test name

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Medium Chain Acyl-CoA Dehydrogenase (MCAD) Mutation Analysis (MCAD)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Screening

Condition

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How to order

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https://testdirectory.questdiagnostics.com/test/home fetal testing requires documentation of parental variants. Please call GeneInfo at 866.463.3443 to discuss fetal cases with a Quest genetic counselor
Order URL Help: https://testdirectory.questdiagnostics.com/test/home

Specimen source

Amniocytes
Amniotic fluid
Cell culture
Chorionic villi
Cord blood
Peripheral (whole) blood

Methodology

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Molecular Genetics
TTargeted variant analysis
SNP Detection

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

Testing strategy

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https://testdirectory.questdiagnostics.com/test/home 000 https://testdirectory.questdiagnostics.com/test/home fetal testing requires documentation of parental variants. Please call GeneInfo at 866.463.3443 to discuss fetal cases with a Quest genetic counselor

Practice guidelines

  • ACMG ACT, 2021
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C8 with Lesser Elevations of C6 and C10 Acylcarnitine, Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, 2021
  • ACMG Algorithm, 2021
    American College of Medical Genetics and Genomics, Algorithm, C8 Elevated + Lesser Elevations of C6 and C10, 2021

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.