Invitae Fatty Acid Oxidation Defects Panel
Use
The Invitae Fatty Acid Oxidation Defects Panel analyzes genes involved in the mitochondrial fatty acid oxidation pathway which are responsible for various fatty acid oxidation disorders (FAODs) due to specific enzyme or transporter defects. These disorders are genetically heterogeneous and can cause symptoms ranging from mild to life-threatening metabolic crises. They often present during times of fasting or physiological stress and are episodic in nature. This test is particularly useful for individuals showing clinical symptoms or laboratory findings suggestive of FAODs, as well as infants with positive or confounding newborn screenings. Early diagnosis can improve prognosis through dietary and medical interventions.
Special Instructions
This test is available through a sponsored no-charge testing program. The Ultragenyx Long-Chain Fatty Acid Oxidation Disorders Program provides additional billing options including insurance and patient-pay. It is important for healthcare providers considering this test to account for coordination with the sponsored program when ordering.
Limitations
The test may not detect all genetic variants associated with fatty acid oxidation disorders. Variant detection is limited to the regions sequenced and may be affected by the quality of the sample. Structural rearrangements, non-coding variants, and certain complex variants may not be detected. Analytical sensitivity for small insertions/deletions (99%, but sensitivity may be reduced for insertions/deletions larger than 15bp yet smaller than a full exon. Single-exon copy number events might sometimes be missed due to sequence properties or data quality issues.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
Purple-top EDTA tube (K2EDTA or K3EDTA)