Fatty Acid Oxidation Disorders Diagnostic Testing Program

  • Fatty Acid Oxidation Disorders Diagnostic Testing Program

    MetaboSeq banner.

    The Cincinnati Children’s Molecular Genetics Laboratory introduces MetaboSeq, our next-generation sequencing panel of 19 genes associated with fatty acid oxidation disorders (FAOD).  

    MetaboSeq provides a rapid and cost-effective analysis of the most common genetic causes of nonspecific FAOD. The indications for MetaboSeq include: 

    • Abnormal newborn screen
    • Unexplained neonatal hypoglycemia
    • Recurrent maternal fatty liver of pregnancy
    • Reye syndrome
    • Rhabdomyolysis / skeletal myopathy
    • Cardiomyopathy or arrhythmias
    • Other nonspecific symptoms of FAOD, including:
      • Liver failure
      • Vomiting
      • Lethargy
      • Seizures
      • Coma

    Sanger sequencing of CPT2, ACADM, ACADVL and SLC22A5, as well as genotyping for the common E510Q mutation in HADHA, is also available when a specific diagnosis is suggested by preliminary biochemical testing.

    Genetic Tests in Our FAOD Diagnostic Testing Program

    MetaboSeq 19-gene sequencing panel

    MCAD deficiency (ACADM)

    CPT2 deficiency (CPT2)

    VLCAD deficiency (ACADVL)

    LCHAD deficiency (HADHA 1528 G>C genotyping)

    Primary carnitine deficiency (SLC22A5)

    Insurance preauthorization is available for every test, and we offer both insurance and third-party billing options.

  • Why Choose Us

    Our Partnership
    Our Expertise
    Customized Reports
  • Contact Us

    You may contact the Fatty Acid Oxidation Disorders Diagnostic Testing Program at Cincinnati Children’s at 513-636-4474 or moleculargenetics@cchmc.org.
  • Molecular Genetics Lab

    The Molecular Genetics Laboratory combines state-of-the-art testing with comprehensive interpretation of test results by experts.

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  • Diagnostic Test Sheets and Requisitions

    Explore our Molecular Genetics Test Index
  • A Guide for Clinicians

    We offer a guide for clinicians to comprehensive molecular testing for fatty acid oxidation disorders that includes: 

    • The genetics of FAOD
    • Indications for MetaboSeq
    • Genes tested and corresponding disorders
    • A diagnostic algorithm
    • Illustration of the pathway for mitochondrial fatty acid beta-oxidation
    • References