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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessPolycythemia/paraganglioma/pheochromocytoma, differential diagnosis

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Summary

Short information

A comprehensive differential diagnostic panel for Polycythemia/paraganglioma/pheochromocytoma containing 1 core candidate gene and altogether 9 curated genes according to the clinical symptoms

ID
PP5001
Number of genes
0 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

No genes linked

Informations about the disease

Synonyms
  • Alias: Carotid body tumors
  • Alias: Chemodectomas
  • Alias: Glomus jugulare tumors
  • Alias: Glomus tumors, familial
  • Alias: Paragangliomas, carotid body
  • Alias: Paragangliomas, familial non-chromaffin
  • Allelic: Acute myeloid leukemia, somatic (DNMT3A)
  • Allelic: Developmental + epileptic encephalopathy 51 (MDH2)
  • Allelic: Glioma, susceptibility to, somatic (IDH)
  • Allelic: Hemoglobin, high altitude adaptation (EGLN1)
  • Allelic: Heyn-Sproul-Jackson syndrome (DNMT3A)
  • Allelic: Leiomyomatosis + renal cell cancer (FH)
  • Allelic: Maffucci syndrome (IDH1)
  • Allelic: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (IDH1)
  • Allelic: Neuroblastoma, susceptibility to, 1 (KIF1B)
  • Allelic: Ollier disease/dyschondroplasia (IDH1)
  • Allelic: Tatton-Brown-Rahman syndrome (DNMT3A)
  • Charcot-Marie-Tooth disease, type 2A1 (KIF1B)
  • Erythrocytosis, familial, 3 (EGLN1)
  • Erythrocytosis, familial, 4 (EPAS1)
  • Familial erythrocytosis [panelapp] (EGLN2)
  • Fumarase deficiency (FH)
  • Paragangliomas 6 (SLC25A11)
  • Pheochromocytoma (KIF1B)
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined