Peroxisomal Disorder Gene Panel, Varies
Use
The Peroxisomal Disorder Gene Panel is utilized for follow-up on abnormal biochemical results, usually corresponding to very long-chain fatty acid tests consistent with peroxisomal disorder. It aids in establishing a molecular diagnosis for patients with peroxisomal disorders and identifies variants in genes associated with these disorders. Furthermore, it allows predictive testing for at-risk family members.
Special Instructions
For prenatal specimens, if an amniotic fluid specimen or cultured amniocytes are received, an additional amniotic fluid culture is performed. Similarly, for chorionic villi or cord blood specimens, relevant additional cultures or studies will be carried out. Fibroblast culture tests are also conducted for skin biopsy samples if viable cells are obtained.
Limitations
This test employs next-generation sequencing to detect single nucleotide and copy number variants in 28 genes associated with peroxisomal disorders. However, the identification of a disease-causing variant aids in diagnosis, prognosis, clinical management, familial screening, and genetic counseling, but the test might not detect all types of variants or those outside the panel's scope.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided