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Hereditary Phaeochromocytomas/Paraganglioma
Short Description : Phaeochromocytomas/Paraganglioma genetic testing

Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Genetics

Referral Requirements

Referring Clinician Requirements

All tests referred through Endocrinology or Genetic Services only.


Endocrinology can be contacted on (09) 307 4949 ext. 26850.

Genetic Health Service NZ can be contacted on 0800 476 123.

Clinical Indication Requirements

International guidelines recommend that, unless there is clinical suspicion of a single-gene syndrome (such as SDHB- or SDHD- associated phaeochromocytoma/paraganglioma syndrome, RET-associated MEN2 syndrome, or VHL- associated Von Hippel-Lindau syndrome), the first line genetic test should include simultaneous sequencing and copy number variant analysis of the  MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127 and VHL genes ( https://www.ncbi.nlm.nih.gov/books/NBK1548/).

 1)  In-house testing: LabPlus can offer single-gene analysis of the SDHB, SDHD, RET and VHL genes if there is clinical suspicion of a monogenic syndrome (indication MUST be noted on the request form).

 2) Sendaway testing: Diagnostic referrals for phaeochromocytoma/paraganglioma without a clear monogenic phenotype should be sent away for testing (LabPlus currently recommends  Invitae labs, USA, for this test please complete a Diagnostic Genetics Sendaway form:  www.labplus.co.nz/dgss).  

Specimen Collection
EDTA8 mL Adult EDTA Blood
EDTA4 mL Paediatric EDTA Blood


For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)

Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.

For testing of other sample types please contact the laboratory prior to sending.

Turnaround Time: Within 13 weeks
Contact Information

Contact Molecular Genetics via:

Lablink                                                     ext 22000

Mark Greenslade (Technical Head)   ext 22010

Pippa Grainger (Section leader)              ext 22014

Email: DGen@adhb.govt.nz

Background Information

Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the head and neck; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the thorax, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor, and apprehension or anxiety). The risk of malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or head and neck paragangliomas.

Molecular genetic testing for the genes associated with Hereditary paraganglioma-pheochromocytoma (PGL/PCC)- SDHAF2 , SDHB , SDHC , SDHD , TMEM127 MAX and VHL are available.

For more information about the Molecular Genetics service:

Molecular Genetics information page

Last updated at 15:49:04 22/03/2021