Fatty Acid Oxidation Disorders Diagnostic Testing Program
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.
Insurance preauthorization is available for every test, and we offer both insurance and third-party billing options.
