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Metabolic / GeneticsLong-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

Invitae Fatty Acid Oxidation Defects Panel

Analyzes genes involved in mitochondrial fatty acid oxidation to evaluate suspected FAODs. Supports diagnosis when symptoms, labs, or NBS findings suggest a defect.

Accessed through the Long-Chain Fatty Acid Oxidation Disorders Sponsored Testing Program•Sponsored by Ultragenyx Pharmaceutical, Inc.•Performed by Invitae | Labcorp

Designed to help patients understand the purpose of testing and what to expect.

For patients

What this test and program do

The program offers no-charge genetic testing for individuals in the US and Canada suspected of a long-chain fatty acid oxidation disorder (LC-FAOD). These rare metabolic conditions affect how the body breaks down long-chain fats — key to energy supply for muscle, heart, and liver function. The Invitae panel examines multiple FAOD-related genes to help confirm a diagnosis, guide care, and support informed health decisions.

Who this may help

Could this be right for you or your family?

  • Resides in the United States or Canada.
  • Meets one or more of the following:
    • Has a completed UltraCare Start Form for LC-FAOD (include abnormal biochemical labs if available).
    • Is suspected of, or has a confirmed diagnosis of, a long-chain fatty acid oxidation disorder and has had a plasma acylcarnitine test performed or ordered, regardless of result.
  • Providing plasma acylcarnitine results or other confirmatory labs is encouraged to support accurate interpretation.

What to expect

How the process works

  1. 1

    Discuss & Order

    Talk with your provider about testing and give consent. Your provider will place the order through Invitae’s online portal.

  2. 2

    Provide a Sample

    Your provider will collect your specimen using an Invitae kit and return it to the lab. Most samples can be shipped at no additional charge from the US and Canada.

  3. 3

    Get Results

    Results are delivered online. Your provider will review them with you, and Invitae’s genetics experts are available if additional support is needed.

Cost & coverage

Understanding potential costs

If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.

Quality & privacy

How your sample and information are handled

Testing is performed by Invitae | Labcorp, a CLIA-certified laboratory (CLIA 05D2040778). Your sample is processed using validated methods and quality controls to support reliable genetic results.

Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.

FAQ

Common questions about this program

What is this program?

This program provides no-charge genetic testing for individuals being evaluated for a long-chain fatty acid oxidation disorder (LC-FAOD). Testing helps clarify whether a genetic FAOD may explain symptoms or abnormal lab findings.

Who is eligible?

Patients in the US or Canada may qualify if they have a completed UltraCare Start Form or if LC-FAOD is suspected or diagnosed and a plasma acylcarnitine test has been completed or ordered.

What sample is needed?

Your provider will collect a saliva, buccal, or blood sample using an Invitae collection kit. Most samples can be returned at no additional charge.

How long do results take?

Results are typically available within 10–21 days after Invitae receives both the specimen and completed test requisition.

Is genetic counseling included?

Yes. Individuals in the US and Canada tested through this program receive post-test genetic counseling at no charge, provided by Invitae. You may schedule through your patient portal or call 1-800-436-3037 and request a genetic counseling appointment.

Test details

  • ConditionLong-Chain Fatty Acid Oxidation Disorders (LC-FAOD)
  • Test typeTargeted NGS Panel
  • Test code06165
  • Genes / markers
    25
  • Key genes / markersACADVL, CPT1A, CPT2, HADHA, HADHB, SLC22A5, SLC25A20
  • SpecimenWhole blood•Saliva•Buccal swab•gDNA
  • Turnaround time10-21 Days
  • LabInvitae | Labcorp
  • Program regionUnited States, Canada

Next steps

Share this information with your metabolic specialist or genetic specialist. They can help determine whether this test and program are appropriate for you.

Or ask your doctor to search for this test by name at Invitae | Labcorp.

Questions to ask your doctor about Invitae Fatty Acid Oxidation Defects Panel

  1. Do you think this test is appropriate for me based on my symptoms and history?
  2. How could the results of this test change my diagnosis or treatment plan?
  3. What are the potential limitations of this test that I should understand?
  4. Should any of my family members also be tested based on my results?
  5. How will we follow up after the results are available?

Notes

See an issue with this program?

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