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-FAOD—ACADVL, 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.
NEWBORN SCREENING/TESTING FOR LC-FAOD10
Turnaround times are estimates only and may vary based on testing facility.
1. Newborn Screening Ontario. 2018. Accessed December 18, 2020. https://www.newbornscreening.on.ca/sites/default/files/2018_nso_annual_report_public_final.pdf 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. https://www150.statcan.gc.ca/t1/tbl1/en/tv.action?pid=1310041401 4. Merritt JL II, Vockley J. Overview of fatty acid oxidation disorders. UpToDate. Updated September 18, 2020. Accessed January 8, 2020. https://www.uptodate.com/contents/overview-of-fatty-acid-oxidation-disorders 5. Statistics Canada. Population estimates. October 1, 2020. Accessed December 18, 2020. https://www150.statcan.gc.ca/t1/tbl1/en/tv.action?pid=1710000901 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. https://www.invitae.com/en/physician/tests/06165/. Accessed February 6, 2020. 10. Wajner M, Amaral AU. Biosci Rep. 2015;36(1):e00281.
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