Hereditary Paraganglioma-Pheochromocytoma Expanded Panel, Sequencing and Deletion/Duplication
Also known as: PGLPCC NGS
Use
This test is used to confirm a clinical diagnosis or family history of hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome. Pathogenic germline variants in multiple genes are implicated in PGL/PCC syndromes, characterized by paragangliomas and pheochromocytomas. Hereditary PGL/PCC often presents with early disease onset, multiple or recurrent tumors, and family history. The epidemiology suggests hereditary disease accounts for 35-40% of PGL/PCC cases.
Special Instructions
Informed consent is required for New York patients. Testing is not New York state-approved, and specimens from New York clients will be sent to a state-approved laboratory. Patients need to submit the Hereditary Cancer Testing Patient History Form with the order.
Limitations
This test may not detect all possible pathogenic variants due to technical limitations, including variants in certain exons of specific genes or large deletions/duplications of fewer than two exons. The analytical sensitivity and specificity vary by variant type, with certain deletions/duplications and single exon variants having reduced detection sensitivity. Non-detectable variants include low-level mosaic conditions, somatic variants, or variants due to complex rearrangements.
Methodology
NGS
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |