Hereditary Paraganglioma-Pheochromocytoma Expanded Panel, Sequencing and Deletion/Duplication
Ordering Recommendation
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.
Mnemonic
Methodology
Massively Parallel Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
21-42 days
New York DOH Approval Status
Specimen Required
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Refrigerated
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report
Laboratory Developed Test (LDT)
Note
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.
Hotline History
Hotline History
CPT Codes
81437; 81438
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3005913 | Spcm PGLPCC | |
3005914 | PGLPCC Interp |
Aliases
- hereditary leiomyomatosis and renal cell cancer (HLRCC)
- multiple endocrine neoplasia
- neurofibromatosis
- Von Hippel Lindau