Genetic Testing

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


LC-FAOD is very rare; there are only an estimated 10-15 births per year with a confirmed diagnosis in Canada.1,2 There is an estimated prevalence of 1 in 100,000 in Canada.3-5*

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.6,7

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.8

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.9

*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.


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


1. Newborn Screening Ontario. 2018. Accessed December 18, 2020. 2. Data on file. Ultragenyx Pharmaceutical Inc. 3. Statistics Canada. Live births, by place of residence of mother. January 12, 2021. Accessed January 12, 2021. 4. Merritt JL II, Vockley J. Overview of fatty acid oxidation disorders. UpToDate. Updated September 18, 2020. Accessed January 8, 2020. 5. Statistics Canada. Population estimates. October 1, 2020. Accessed December 18, 2020. 6. Saudubray JM, Martin D, de Lonlay P, et al. J Inherit Metab Dis. 1999;22(4):488-502. 7. Yamada K, Taketani T. J Hum Genet. 2019;64(2):73-85. 8. Knottnerus SJG, Bleeker JC, Wüst RCI, et al. Rev Endocr Metab Disord. 2018;19(1):93-106. 9. Fatty Acid Oxidation Defects Panel. Invitae website. Accessed February 6, 2020. 10. Wajner M, Amaral AU. Biosci Rep. 2015;36(1):e00281.


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