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

IllnessOsteoarthropathie, primäre hypertrophe; Differentialdiagnose

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Summary

Short information

A curated panel containing 4 genes for the comprehensive analysis of the genetically caused forms of Osteoarthropathy, primary hypertrophic

ID
OP8811
Number of loci
Loci typeCount
Gen4
Accredited laboratory test
Examined sequence length
4,3 kb (Core-/Core-canditate-Genes)
5,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ACVR11530NM_001105.5AD
HPGD801NM_000860.6AR
SLCO2A11932NM_005630.3AR
UFSP21422NM_018359.5AD

Informations about the disease

Clinical Comment

Genetically + clinically heterogeneous: drumstick fingers + osteoarthropathy with varying degrees of pachydermia, delayed fontanel closure + congenital heart defects; 2 forms, pachydermoperiosteosis + cranio-osteoarthropathy

 

Synonyms
  • Alias: Familial idiopathic osteoarthropathy of childhood
  • Allelic: Digital clubbing, isolated congenital (HPGD)
  • Cranioosteoarthropathy (HPGD)
  • Fibrodysplasia ossificans progressiva (ACVR1)
  • Hip dysplasia, Beukes type (UFSP2)
  • Hypertrophic osteoarthropathy, primary, AR 1 (HPGD)
  • Hypertrophic osteoarthropathy, primary, AR 2 (SLCO2A1)
  • Pachydermoperiostosis (SLCO2A1, HPGD)
  • Spondyloepimetaphyseal dysplasia, Di Rocco type (UFSP2)
  • Touraine-Solente-Gole syndrome (HPGD)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined