Paraganglioma-Pheochromocytoma: Deletion/Duplication Panel

Condition Description

The estimated prevalence of pheochromocytomas (PHEOs) is 1:4500 and 1:1700 for paragangliomas (PGLs), with an annual incidence of 3 to 8 cases per 1 million a year in the general population. The age of onset for PGL individuals is between 15 and 45 years of age, with early symptoms typically consisting of local swelling and cranial nerve injury. Although the tumors are benign in nature, only 4-16% shows malignant degeneration, giving rise to swelling causing cranial nerve damage, facial asymmetry, deafness, or hoarseness. PGLs are composed of pheochromocytomas (PCC, fPGLs, PH, or PHEOs) and extra-adrenal PGLs, and are characterized by the tumor production and secretion of catecholamines arising from the adrenal medulla (pheochromocytoma) or sympathetic nervous ganglia. Diagnosis for PGLs is determined by a biochemical assay, tumor location, function, inheritance, and gene mutation. If the tumor has metastasized the overall five year survival rate in patients is 40-72%. Size and location of the primary tumor has been correlated with risk for metastasis and the duration of survival.

  • Kantorovich V, King K, Pacak K. SDH-related Pheochromocytoma and paraganglioma. Best Pract Res Clin Endocrinol Metab. Jun 2010; 24(3): 415–424.

Genes (9)

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The test is indicated for:
  • Individuals with a clinical or suspected diagnosis of pheochromocytomas and paragangliomas.


Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.


Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient's clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.

Special Instructions

This test is for germline mutation analysis. DNA isolated from FFPE tumor samples is not suitable for this test.
  • Hereditary Cancer Syndrome: Sequencing Panel.
  • Paraganglioma-Pheochromocytoma: Sequencing Panel.

How to Order

Requisition Forms