Fatty Acid Oxidation Disorders Panel, Sequencing
Also known as: FAOD NGS
Use
Fatty acid oxidation disorders are a group of inherited metabolic conditions that can present with a variety of symptoms including hypoketotic hypoglycemia, lethargy, seizures, and more severe outcomes such as sudden death. These disorders result from pathogenic variants in genes responsible for fatty acid metabolism, and their clinical presentation can be highly variable depending on the specific genetic mutations involved. This test is intended for individuals showing clinical signs of a fatty acid oxidation disorder to aid in diagnosis by identifying pathogenic variants in associated genes.
Special Instructions
Not provided.
Limitations
This assay may not detect deletions/duplications/insertions of any size, regulatory region variants, or large deletions/duplications. Variants may not be identified due to technical limitations including pseudogenes and homologous regions. The test does not detect low-level mosaic or somatic variants, gene conversion events, mitochondrial DNA mutations, or repeat expansions. Diagnostic errors may occur due to rare variants. Noncoding regions and certain exons of LPIN1 may not be sufficiently covered.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1.5 mL
Container
Lavender or pink (EDTA)
Storage Instructions
Refrigerated.
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush or swab. FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
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