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

IllnessHypertrophic osteoarthropathy, primary

Summary

Short information

Two core candidate gene sequences and altogether three curated gene analyses according to the clinical suspicion primaty hypertrophic osteoarthropathy

ID
TS0370
Number of genes
2 Accredited laboratory test
Examined sequence length
2,8 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

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
HPGD801NM_000860.6AR
SLCO2A11932NM_005630.3AR

Informations about the disease

Clinical Comment

Digital clubbing + osteoarthropathy, with variable pachydermia, delayed closure of the fontanels, congenital heart disease. Two types of PHO: pachydermoperiostosis + cranio-osteoarthropathy

 

Synonyms
  • Alias: Idiopathic hypertrophic osteoarthropathy
  • Alias: Ranioosteoarthropathy
  • Allelic: Cranioosteoarthropathy (HPGD)
  • Digital clubbing, isolated congenital (HPGD)
  • Fibrodysplasia ossificans progressiva (ACVR1)
  • Hypertrophic osteoarthropathy, primary, AR 1 (HPGD)
  • Hypertrophic osteoarthropathy, primary, AR 2 (SLCO2A1)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined