Fatty Acid Oxidation Deficiency Panel by Massively Parallel Sequencing
Use
The Fatty Acid Oxidation Deficiency Panel is crucial for diagnosing various fatty acid oxidation deficiencies that affect individuals' metabolic pathways. These conditions primarily include deficiencies in carnitine palmitoyl transferases I and II, mitochondrial complex I deficiencies, and medium-chain acyl-CoA dehydrogenase deficiencies (MCAD). The clinical implications are significant as they involve energy production within the mitochondria, with potential symptoms manifesting as hypoglycemia, seizures, and fatigue, particularly during fasting or illness. A timely diagnosis can lead to effective management strategies, reducing the risk of severe outcomes and improving patient quality of life. It serves patients with a clinical diagnosis of FAO deficiency, as well as those with uncertain diagnoses from newborn screenings, prior testing, or unclear family histories, highlighting its importance in genetic testing.
Special Instructions
The test requires specific preparation steps. Prior to testing, a healthcare provider should collect relevant specimens. This test is suitable for individuals with clinical diagnoses or suspected fatty acid oxidation deficiencies. Coordination with the lab’s client services is advised for any logistical support or clarification regarding specimen collection and shipping details, particularly for unusual cases or family studies.
Limitations
Though the test effectively identifies variants within the 20 genes analyzed, it may not detect genomic structural rearrangements, large insertion mutations, or mutations in deep intronic and promoter regions. Sample quality and the presence of homologous sequences can influence the accuracy of read depth assessments, potentially limiting the detection of some copy number changes. Therefore, while a normal result offers substantial reassurance, it does not conclusively rule out the presence of significant genetic anomalies. Further functional studies or comparative genomic hybridization may be warranted based on findings should the initial NGS analysis suggest possible copy number changes. Thus, it is crucial for clinicians to interpret test outcomes within the context of the patient's clinical presentation and family history.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Unknown)
Volume
5cc (children) or 10cc (adults)
Minimum Volume
Not provided
Container
EDTA tube
Collection Instructions
Draw blood in EDTA (purple-top) tube(s) for the patient and both parents.
Storage Instructions
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |