Sponsored, no-charge genetic testing for individuals suspected of having long-chain fatty acid oxidation disorders.

Program eligibility

This program is available to patients in the US and Canada who meet at least one of the following criteria:

  • 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.

This program offers the Invitae Fatty Acid Oxidation Defects Panel to test for variants in 21 genes:

ACADM, ACADS, ACADSB, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADH, HADHA, HADHB, HMGCL, HMGCS2, MLYCD, SLC22A5, SLC25A20, NADK2, SLC52A1, SLC52A2, SLC52A3

These genes are known to be associated with beta-oxidation of fatty acids, carnitine shuttle, carnitine transport, ketogenesis, and conditions which may cause similar abnormal profiles on plasma acylcarnitine analysis.

Ordering made easy

To place an order:

  1. Sign up for an account and start a new order
  2. Under Test Selection, click on the Partnership Programs tab and enter “FAOD” in the Invitae Partner Code field
  3. Use the search bar to find and select the Invitae Fatty Acid Oxidation Defects Panel.
  4. Fill in the required patient information
  5. Under Billing Information, select Institutional Billing and leave all fields blank
  6. Complete the Order Authorization section and submit the order
  7. Fill out, print, and sign the eligibility criteria form, which includes a required physician consent, and include it with the specimen

To collect a specimen:

  1. Order a specimen collection kit (blood or saliva)*
  2. Label the sample tube with the patient’s full name, date of birth, and sample collection date
  3. For additional information, please see specimen and shipping requirements
  4. Include the paper order form with your sample

*Blood, saliva, and assisted saliva samples are accepted; DNA samples are not accepted for this program.

To receive results:

  1. Once Invitae receives the sample, you will receive the results in 10 to 21 calendar days on average
  2. If you created an online account, you can view the status of your order by logging into your account
  3. You will receive a notification email once the test results are ready

Support every step of the way

Clinical consult services

Invitae’s team of board-certified and experienced genetic counselors trained in medical genetics is available to assist clinicians:

  • review patient cases that may benefit from genetic testing

  • differentiate between genetic tests to select the one that is most suitable for your patient

  • aid in interpreting results -provide result-specific background regarding variants, genes, and conditions

  • identify gene-specific information including relevant literature and studies, published management guidelines, and patient resources

For more information about Invitae’s Clinical Consult Services, please contact our Client Services team.

Confidence begins with quality

  • Commitment to quality: Invitae’s >1000 patient peer-reviewed study, published in the Journal Molecular Diagnostics, the official journal of the Association for Molecular Pathology, shows equivalence to established standards.

  • Sample options: blood and saliva kits provided free of charge.

  • Strong team: Invitae has more than 300 experts in genetics, bioinformatics, engineering, technology, and commercial development.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at invitae.com.

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.

Disclaimer

While Ultragenyx provides financial support for this program, the genetic testing and counseling services are performed by independent third parties. Healthcare professionals must confirm that patients meet certain criteria to use the program and shall not seek reimbursement for the testing or services provided under this program from any third party, including but not limited to federal healthcare programs.  Ultragenyx receives de-identified patient data from this program, but at no time does Ultragenyx receive patient identifiable information. Ultragenyx receives contact information for healthcare professionals who use this program. Genetic testing and counseling services are available in the US and Canada only. Healthcare professionals who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Ultragenyx product.