Hereditary Paraganglioma-Pheochromocytoma Expanded Panel, Sequencing and Deletion/Duplication
Recommended test to confirm a clinical diagnosis or family history of a hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome.
To compare this test to other hereditary cancer panels, refer to the ARUP Hereditary Cancer Panel Comparison table.
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)
Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: 5 mL (Min: 2 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable
Massively Parallel Sequencing
Refer to report
Laboratory Developed Test (LDT)
Genes Tested: FH; MAX; MEN1*; NF1; RET; SDHA*; SDHAF2; SDHB; SDHC*; SDHD*; TMEM127; VHL*
*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; see Additional Technical Information.
|Component Test Code*||Component Chart Name||LOINC|
- hereditary leiomyomatosis and renal cell cancer (HLRCC)
- multiple endocrine neoplasia
- Von Hippel Lindau