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.