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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessParaganglioma 3 / phaeochromocytoma


Short information

Curated single gene sequence analysis according to the clinical suspicion Paraganglioma 3/Pheochromocytoma

Number of genes
1 Accredited laboratory test
Examined sequence length
0,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Paragangliomas are rare, catecholamine-secreting neuroendocrine tumors commonly located in the pre-aortic and paravertebral sympathetic plexus or skull base. Functionally, paragangliomas are highly vascularized and either parasympathetic or sympathetic. Parasympathetic tumors are usually inactive, while sympathetic lesions are highly active and symptomatic. Paragangliomas, as usually unilateral, singular tumors, may be multiple in familial forms. The mostly benign tumors rarely degenerate, 30-40% occur familially and some may be associated with genetic syndromes (incl. pheochromocytoma) as in SDHC mutations. Pathogenic SDHC variants are detectable in 2-8% of paragangliomas. Inheritance is autosomal dominant with variable expressivity; age-dependent penetrance for familial SDHC cases is 25%. The DNA diagnostic yield is a maximum of 50% for all "paraganglioma genes" combined. Therefore, an inconspicuous genetic finding does not imply exclusion of the suspected clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1548/


  • Alias: Carotid body tumors
  • Alias: Chemodectomas
  • Alias: Familial pheochromocytoma-paraganglioma
  • Alias: Glomus jugulare tumors
  • Alias: Glomus tumors, familial
  • Alias: Paragangliomas, carotid body
  • Alias: Paragangliomas, familial non-chromaffin
  • Gastrointestinal stromal tumor (SDHC)
  • Paraganglioma + gastric stromal sarcoma (SDHC)
  • Paragangliomas 3 (SDHC)
Heredity, heredity patterns etc.
  • AD
ICD10 Code

Bioinformatics and clinical interpretation

No text defined