Overview

Test Name

Hereditary Paraganglioma Pheochromocytoma Panel

Test Code

HCE1013

Test Category

Gene Panels

Test Subcategory

Hereditary Cancer

Disease(s) Targeted

Paraganglioma Pheochromocytoma

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis paraganglioma pheochromocytoma

Test Approach

Paraganglioma Pheochromocytoma

No. of Genes

14

Panel Content

FH, KIF1B, MAX, MEN1, NF1, PRKAR1A, RET,SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

Mitochondrial Genome Included In The Analysis

No

Deliverables

Clinical Report (Download a sample report here)

Turnaround Time

~3-6 weeks*

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About Paraganglioma Pheochromocytoma

Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterised by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla).

About 35-40% of all paragangliomas and pheochromocytomas are associated with a hereditary predisposition. Individuals with HPP often develop tumors at a younger age, have more than one tumor, or tumors in paired organs (bilateral).

The condition is caused by genetic variants in genes such as the SDHx genes (SDHA, SDHB, SDHC, SDHD, SDHAF2), MAX, or TMEM127. For some genes, particularly the SDHD and SDHAF2, the risk of developing a tumor is significantly higher or almost exclusive when the gene variant is inherited from the father.