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GTR Home > Tests > Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Overview

Test order codeHelp: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD)

Test name

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Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Predictive, Recurrence

Condition

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How to order

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Please complete the requisition found on the website and ensure it is signed by the referring physician
Order URL Help: http://www.lhsc.on.ca/palm/molecular.html

Specimen source

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

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina MiSeq/NextSeq
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Applied Biosystems 3730 capillary sequencing instrument
  • Illumina MiSeq/NextSeq

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Guidance for management

Guidance for selecting a drug therapy and/or dose

Predictive risk information for patient and/or family members

Clinical validity

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Medium chain acyl CoA dehydrogenase (ACADM, a.k.a. MCAD) deficiency is a recessive trait associated with defective oxidation of fatty acids which may have serious clinical sequelae. In the Ontario population approximately 90%1 of alleles associated with ACADM (MCAD) deficiency have a single A>G mutation at nucleotide #985. Thus approximately 81% of clinically affected members of this population would be expected to be homozygous for the 985A>G mutation, 18% would be compound heterozygotes while 13% of the alleles are expected to carry the 199C>T mutation with the remaining mutations being private mutations distributed throughout the ACADM gene.

Citations

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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

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