• 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 laboratory is a collaboration between the Molecular Genetics Laboratory and FAOD clinical expert Arnold Strauss, MD. This partnership allows for optimum care of your patients.

    Our Partnership


    Our Expertise

    Our team of experts provides guidance in test selection, clinical interpretation, medical management and follow-up testing, recommendations for genetic counseling and coordination of studies for at-risk family members. Experts are also available to assist with insurance preauthorization, billing and reimbursement.

    Our Expertise


    Customized Reports

    Clinical interpretations are written in conjunction with our nationally recognized pediatric cardiologist, board-certified molecular and medical geneticists and genetic counselors. Each report includes a detailed interpretation of the findings, their clinical significance and clinical recommendations for follow-up. 

    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