Invitae Hereditary Paraganglioma-Pheochromocytoma Panel
Use
The Invitae Hereditary Paraganglioma-Pheochromocytoma Panel analyzes genes associated with predisposition to paraganglioma and pheochromocytoma. Genetic testing of these genes can confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early symptom detection, inform family planning, and promote enrollment in clinical trials. This test is for heritable germline mutations and not appropriate for detecting somatic mutations in tumor tissue.
Special Instructions
Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Some genes may also be associated with additional unrelated disorders not included in the list of disorders tested.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp, and exon-level deletions and duplications. Limitations include the possibility of marginally reduced sensitivity for insertions/deletions larger than 15bp but smaller than a full exon. Rare single-exon copy number events may not be analyzed due to inherent sequence properties or data quality. Structural rearrangements and sequence changes in the promoter, non-coding exons, and other non-coding regions are generally not covered, unless explicitly guaranteed.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant