Fatty Acid Oxidation Disorders Diagnostic Testing Program

  • About MetaboSeq

    Comprehensive analysis of multiple genes with MetaboSeq will be useful in cases where a specific disorder cannot be pinpointed using biochemical testing, clinical symptomatology (which may exhibit overlapping phenotypes) or traditional single-gene molecular testing. 

    MetaboSeq provides a rapid and cost-effective analysis of the most common genetic causes of FAO defects for patients who have:

    • An abnormal newborn screen (which does not indicate a specific disorder or leads to genetic testing for a specific syndrome with a negative result)
    • Unexplained neonatal hypoglycemia
    • Nonspecific FAO defects symptoms (lethargy, vomiting, liver failure, cardiomyopathies, recurrent maternal acute fatty liver of pregnancy)

    Genes Included in MetaboSeq Panel

    ACAD9

    CPT1A

    ETFDH

    HADHB

    SLC22A5

    ACADM

    CPT2

    GLUD1

    HMGCL

    SLC25A20

    ACADS

    ETFA

    HADH

    HSD17B10

    TAZ

    ACADVL

    ETFB

    HADHA

    PPARG

 
  • Our Expertise

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    Our molecular geneticists, as well as metabolic disease expert and cardiologist Arnold Strauss, MD, enhance our test results with their expert interpretation.