Cost 
$3,890.00
TAT 
4-6 weeks
CPT Code 
81445
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA

A pheochromocytoma (PCC) is a tumor arising from adrenomedullary chromaffin cells that commonly produces one or more catecholamines. A paraganglioma (PGL) is a tumor derived from extra-adrenal chromaffin cells of the sympathetic paravertebral ganglia of thorax, abdomen, and pelvis. PGLs also arise from parasympathetic ganglia located along the glossopharyngeal and vagal nerves in the neck and at the base of the skull; these do not produce catecholamines. Most of the PCC/PGL hypersecrete catecholamines, and if left untreated have high cardiovascular morbidity and mortality. PCC/PGLs enlarge with time and may cause mass-effect symptoms by encroaching upon or extending into adjacent tissues and organs. Some PCC/PGLs also have the potential to become malignant.

Hereditary PCC/PGLs represent 30-50% of all PCC/PGLs, for which prevalence is around 1/500,000 for PCC and 1/1,000,000 for PGL. The prevalence of PCC/PGL in patients with hypertension in general outpatient clinics varies between 0.2 and 0.6%. PGLs can occur at any age but have the highest incidence between the ages of 40 and 50 years. Patients with hereditary PCC/PGLs typically present with multifocal disease and at a younger age than those with sporadic neoplasms. Prevalence of germline mutations is also high among patients with bilateral or multifocal PCC/PGLs. The inheritance pattern of PCC/PGL depends on the gene involved. While most families show traditional autosomal dominant inheritance, those with mutations in SDHAF2 and SDHD show almost exclusive paternal transmission of the phenotype. PCC/PGL can be seen as part of several well-described tumor susceptibility syndromes including von Hippel-Lindau, multiple endocrine neoplasia type 2, neurofibromatosis type 1, Carney Triad, Carney-Stratakis syndrome, and renal cell carcinoma with SDHB mutation. Detection of a tumor in the proband may result in earlier diagnosis and treatment in other family members.

Our Hereditary Pheochromocytoma and Paraganglioma Panel includes sequencing and deletion/duplication analysis of the following 14 genes: EGLN1, EPAS1, KIF1B, MEN1, MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL.

Any gene in the Hereditary Pheochromocytoma and Paraganglioma Panel can also be ordered individually. Please contact us directly for cost and CPT code information.