Test ID: HPGP    
Hereditary Pheochromocytoma/Paraganglioma Multi Gene Panel, Varies

Providing a comprehensive evaluation for paraganglioma/pheochromocytoma in patients with a personal or family history suggestive of a hereditary paraganglioma/pheochromocytoma syndrome

Serving as a second-tier test for patients in whom previous targeted gene variant analyses for specific hereditary paraganglioma/pheochromocytoma-related genes were negative

Establishing a diagnosis of a hereditary paraganglioma/pheochromocytoma syndrome in some cases, allowing for targeted cancer surveillance of associated tissues and organs known to be at increased risk for tumor or cancer

Identifying variants within genes known to be associated with increased risk for paraganglioma/pheochromocytoma allowing for predictive testing of at-risk family members

This test includes next-generation sequencing and multiplex ligation-dependent probe amplification to evaluate for the genes listed on the panel.

Sanger sequencing may also be performed to confirm detected variants.

The RET gene is not included in the multiplex ligation-dependent probe amplification (MLPA) portion of the test.

• Molecular Genetics: Inherited Cancer Syndromes Patient Information
• Informed Consent for Genetic Testing
• Informed Consent for Genetic Testing (Spanish)

Long-range PCR amplification of targeted genes followed by next-generation sequencing and gene dosage analysis by multiplex ligation-dependent probe amplification (MLPA). Confirmations are performed using polymerase chain reaction (PCR) and Sanger sequencing.