Hereditary Paraganglioma-Pheochromocytoma Expanded Panel, Sequencing and Deletion/Duplication

3005912
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Example Reports
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Positive

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Hereditary Cancer Testing Patient History Form

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Additional Technical Information

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

PGLPCC NGS

Methodology

Massively Parallel Sequencing/Multiplex Ligation-dependent Probe Amplification

Performed

Varies

Reported

21-42 days

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (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

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

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
02/21/2023
X
N/A

CPT Codes

81437; 81438

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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