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

IllnessParaganglioma 4 / phaeochromocytoma


Short information

Curated single gene sequence analysis according to the clinical suspicion of Paraganglioma 4/Pheochromocytoma

Number of genes
1 Accredited laboratory test
Examined sequence length
0,9 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 (exception SDHB tumors up to 97% degeneration), 30-40% occur familially, some may be associated with genetic syndromes (incl. pheochromocytoma) as in SDHB mutations. Pathogenic SDHB variants are detectable in 10-25% of paragangliomas. Inheritance is autosomal dominant with variable expressivity; age-dependent penetrance for familial SDHB cases is up to >50%. 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: Glomus jugulare tumors
  • Alias: Glomus tumors, familial
  • Alias: Paragangliomas, carotid body
  • Alias: Paragangliomas, familial non-chromaffin
  • Allelic: Gastrointestinal stromal tumor (SDHB)
  • Allelic: Paraganglioma + gastric stromal sarcoma (SDHB)
  • Paragangliomas 4 (SDHB)
  • Pheochromocytoma (SDHB)
Heredity, heredity patterns etc.
  • AD
ICD10 Code

Bioinformatics and clinical interpretation

No text defined