Fatty Acid Oxidation Gene Panel, Varies
Use
The Fatty Acid Oxidation Gene Panel aids in the follow-up for abnormal biochemical results that suggest a fatty acid oxidation disorder. It is instrumental in establishing a molecular diagnosis for patients exhibiting symptoms consistent with such disorders. Moreover, the test plays a crucial role in identifying genetic variants within genes associated with fatty acid oxidation disorders, thereby facilitating predictive testing for at-risk family members. Identification of a disease-causing variant can significantly impact diagnosis, prognosis, clinical management, and genetic counseling.
Special Instructions
Prenatal specimens such as amniotic fluid or chorionic villi require culture processes that incur additional charges. Likewise, skin biopsy or cultured fibroblast specimens also necessitate fibroblast culture. In cases of prenatal specimens, or if cord blood specimens are provided with maternal blood specimens, maternal cell contamination testing is performed for additional charges.
Limitations
The test uses sequence capture and targeted next-generation sequencing to detect single nucleotide and copy number variants in 44 genes. While this comprehensive approach covers numerous mutations, it may not detect all genetic changes, and certain types of genomic alterations could be missed. As such, a negative result does not entirely exclude a fatty acid oxidation disorder. Reflex tests including fibroblast culture or maternal cell contamination studies might be required, depending on the type of specimen received and clinical context.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
If amniotic fluid specimen or cultured amniocytes are received, an amniotic fluid culture will be performed at additional charge.