Long-Chain Fatty Acid Oxidation Disorders Program

Sponsored, no-charge genetic testing
US and Canada

Long-Chain Fatty Acid Oxidation Disorders

What is the Long-Chain Fatty Acid Oxidation Disorders Program?

This program provides sponsored, no-charge genetic testing for individuals suspected of having long-chain fatty acid oxidation disorders (LC-FAOD).

Long-chain fatty acid oxidation disorders are a group of six rare autosomal recessive disorders that are caused by defects in the mitochondrial carnitine shuttle or β-oxidation enzymes.

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About LC-FAOD and the Long-Chain Fatty Acid Oxidation Disorders Program

  • This Long-Chain Fatty Acid Oxidation Disorders Program is for patients with a suspected LC-FAOD diagnosis. The program was created to provide access to genetic testing to patients as a way to help people make more informed decisions about their health.

About LC-FAOD

LC-FAOD result from defective enzymes involved in the transport and /or catabolism of long-chain fatty acids and include the following types 1-4:

  • Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (ACADVL)
  • Carnitine palmitoyltransferase I (CPT I) deficiency (CPT1A)
  • Carnitine palmitoyltransferase II (CPT II) deficiency (CPT2)
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (HADHA)
  • Trifunctional protein (TFP) deficiency (HADHA, HADHB)
  • Carnitine-acylcarnitine translocase (CACT) deficiency (SLC25A20)

Criteria requirements

Healthcare professionals must confirm that patients meet certain criteria to use the program.

De-identified patient data

Ultragenyx receives de-identified patient data from this program, but at no time does Ultragenyx receive patient-identifiable information. Ultragenyx uses healthcare professional contact information for research and commercial purposes.

No obligation

Healthcare professionals or patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Ultragenyx product.

Program eligibility

To be eligible for this program, patients in the US and Canada must meet at least one of the criteria below.

  • Has a completed UltraCare Start Form for LC-FAOD (if available, please provide a copy of abnormal biochemical confirmatory labs)

  • Is suspected of having or has been diagnosed with a long-chain fatty acid oxidation disorder AND a plasma acylcarnitine test has either been performed (regardless of result, abnormal or normal) or has been ordered.

Providing a copy of plasma acylcarnitines results, or any other confirmatory tests, when available, is strongly encouraged. These results are helpful for variant interpretation and in some cases can make a difference for the final interpretation of the variant.

Test options

This program offers testing with the following panel. Learn more about the panels in our test catalog before placing your order on this program page.

Note: Re-requisitions are not available through this sponsored testing program.

How to order

Our easy-to-order panels align with professional guidelines, making your next steps clear.

  • Step 1 duotone icon

    Step 1

    Discuss testing and get consent from the eligible patient. Place your order via our convenient online portal.

  • Step 2 duotone icon

    Step 2

    Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US and Canada.

  • Genetic testing expert - Invitae icon

    Step 3

    Receive results online and discuss with your patients. Invitae's genetics experts are available to help answer your questions.

See how it works

About Ultragenyx Pharmaceutical, Inc.
Ultragenyx is a biopharmaceutical company committed to bringing to patients novel products for the treatment of serious rare and ultra-rare genetic diseases. The company has built a diverse portfolio of approved therapies and product candidates aimed at addressing diseases with high unmet medical need and clear biology for treatment, for which there are no approved therapies.

The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. Ultragenyx’s strategy is predicated upon time- and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency.

For more information on Ultragenyx, please visit the company's website at www.ultragenyx.com.


References

1. Knottnerus SJG, Bleeker JC, Wüst RCI, et al. Rev Endocr Metab Disord. 2018;19(1):93-106.
2. Wajner M, Amaral AU. Biosci Rep. 2015;36(1):e00281.
3. Lindner M, Hoffmann GF, Matern D. J Inherit Metab Dis. 2010;33(5):521-526.
4. Wanders RJ, Ruiter JP, IJLst L, Waterham HR, Houten SM. J Inherit Metab Dis. 2010;33(5):479-494.


Disclaimer: This is a sponsored testing program. While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Invitae. Healthcare professionals must confirm that patients meet certain criteria to use the program. Third parties and commercial organizations may receive de-identified (pseudonymized) patient data from this program, but at no time would they receive patient identifiable information. Third parties and commercial organizations may receive contact information for healthcare professionals who use this program. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any other products or services from Invitae or from third parties or commercial organizations.