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.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: 5 mL (Min: 2 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-15 days

Reference Interval

By report

Interpretive Data

Refer to report

Compliance Category

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

N/A

CPT Codes

81437; 81438

Components

Component Test Code* Component Chart Name LOINC
3005913 Spcm PGLPCC
3005914 PGLPCC Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • hereditary leiomyomatosis and renal cell cancer (HLRCC)
  • multiple endocrine neoplasia
  • neurofibromatosis
  • Von Hippel Lindau
Hereditary Paraganglioma-Pheochromocytoma Expanded Panel, Sequencing and Deletion/Duplication