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
Not provided.
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