Genetic Testing

Long-chain fatty acid oxidation disorder testing

Confirmatory genetic testing may be appropriate for anyone with a suspected LC-FAOD diagnosis1


LC-FAOD is rare; there are only an estimated 100 births per year with a confirmed diagnosis in the United States. An estimated 2,000 to 3,500 patients in the United States are currently living with LC-FAOD.2*

Onset of LC-FAOD symptoms typically occurs during the neonatal period and infancy. However, some patients with slower disease progression may NOT be diagnosed or diagnosed at a later age.3,4

Confirmatory genetic testing may be appropriate for anyone with a suspected LC-FAOD diagnosis based on clinical symptoms, laboratory findings, or a combination of both.1

Screening of genes involved in LC-FAODACADVL, CPT1A, CPT2, HADHA, HADHB, and SLC25A20—are commercially available. Certain LC-FAOD types may require additional mutational analysis.5

*LC-FAOD is a rare disease with limited epidemiological data; therefore, estimates provided here are based on internal data and market research.

Learn more about a program offering no-charge genetic testing to eligible patients suspected of having an LC-FAOD.


Newborn screening and testing for LC-FAOD

Turnaround times are estimates only and may vary based on testing facility.


1. Knottnerus SJG, Bleeker JC, Wüst RCI, et al. Rev Endocr Metab Disord. 2018;19(1):93-106. 2. Ultragenyx Pharmaceutical Inc. Data on file. 3. Saudubray JM, Martin D, de Lonlay P, et al. J Inherit Metab Dis. 1999;22(4):488-502. 4. Yamada K, Taketani T. J Hum Genet. 2019;64(2):73-85. 5. Fatty Acid Oxidation Defects Panel. Invitae website. Accessed February 6, 2020. 6. Wajner M, Amaral AU. Biosci Rep. 2015;36(1):e00281.

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