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 support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
This Ultragenyx-sponsored program provides the Invitae Fatty Acid Oxidation Defects Panel at no charge to clinicians, patients, or payers for individuals with suspected long-chain fatty acid oxidation disorders. Covering 25 genes involved in long-chain fatty acid transport and beta-oxidation via NGS, the panel supports diagnostic confirmation, personalized management, and appropriate follow-up. Ordering through this program carries no obligation to prescribe, recommend, or support any Ultragenyx product.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Patient is in an eligible country for the program
- Select at least one of the following:
- The patient has completed the UltraCare Start Form for LC-FAOD
- Carnitine palmitoyltransferase (CPT) IA deficiency is suspected or diagnosed
- Carnitine-acylcarnitine translocase (CACT) deficiency / Carnitine palmitoyltransferase (CPT) II deficiency is suspected or diagnosed
- Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency / Mitochondrial trifunctional protein (TFP) deficiency is suspected or diagnosed
- Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is suspected or diagnosed
Workflow
How to use this program
- 1
Order Test
Discuss testing with the eligible patient, obtain consent, and place the order through Invitae’s online portal.
- 2
Collect Sample
Collect the specimen using an Invitae kit and return it using the provided shipping label. Most samples ship at no additional charge from the US and Canada.
- 3
Review Results
Access results in the provider portal and review them with the patient. Invitae’s genetics experts are available to assist with interpretation.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
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
Frequently asked questions
Which patients are appropriate for the sponsored LC-FAOD genetic testing program?
The Long-Chain Fatty Acid Oxidation Disorders Program is designed for patients with a clinical suspicion of LC-FAOD who meet the program's eligibility criteria. It is available to healthcare professionals ordering on behalf of patients in the United States. The program supports diagnostic workup and can aid in confirming a molecular diagnosis to guide ongoing management.
What genes and methodology does the Invitae Fatty Acid Oxidation Defects Panel cover?
The Invitae Fatty Acid Oxidation Defects Panel analyzes 25 genes associated with fatty acid oxidation defects using next-generation sequencing (NGS). The panel covers genes involved in long-chain fatty acid transport and beta-oxidation pathways. Testing is performed by Invitae at Labcorp.
What specimen types are accepted for the LC-FAOD sponsored testing program?
The program accepts whole blood, saliva, buccal swab, or extracted genomic DNA (gDNA). Specimen collection kits can be requested through the program's ordering portal. This flexibility in specimen type can simplify collection, particularly in pediatric patients.
What is the turnaround time for results from the LC-FAOD genetic panel?
The Invitae Fatty Acid Oxidation Defects Panel typically returns results within 10 to 21 days after the laboratory receives the specimen. Results are delivered to the ordering clinician and can be used to confirm a diagnosis, inform management decisions, and guide follow-up care.
Is there any cost or billing associated with ordering the sponsored LC-FAOD genetic test?
There is no cost to the ordering provider, the patient, or any payer. Ultragenyx Pharmaceutical fully sponsors the program, covering the cost of the Invitae Fatty Acid Oxidation Defects Panel. No claims are submitted to insurance, and no bills are generated for any party.
Does ordering through the LC-FAOD sponsored testing program create any prescribing obligation?
No. Healthcare professionals who order through the Long-Chain Fatty Acid Oxidation Disorders Program have no obligation to recommend, prescribe, purchase, promote, administer, use, or support any Ultragenyx product. The program is provided solely to support diagnostic evaluation and patient management.
Which patients are eligible for Long-Chain Fatty Acid Oxidation Disorders Long-Chain Fatty Acid Oxidation Disorders genetic testing?
Patients may qualify for Long-Chain Fatty Acid Oxidation Disorders if they meet the program's eligibility criteria:
- Ordering provider is practicing in the United States or Canada.
- Patient must meet one or more of the following:
- A completed UltraCare Start Form for LC-FAOD is available (attach any abnormal confirmatory biochemical labs when possible).
- Clinical suspicion or confirmed diagnosis of long-chain fatty acid oxidation disorder, and a plasma acylcarnitine test has been completed or ordered, irrespective of whether the result is normal or abnormal.
- Submission of available biochemical results is strongly encouraged to assist with variant interpretation.
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