IllnessHypertrophic osteoarthropathy, primary

Request form illness

Summary

Short information

Three curated single gene sequence analyses according to the clinical suspicion primaty hypertrophic osteoarthropathy

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

Name	Exon Length (bp)	OMIM-G	Heredity
HPGD	801	601688	AR
SLCO2A1	1932	601460	AR

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

M89.4-

Bioinformatics and clinical interpretation

No text defined