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

IllnessMultiple epiphyseal dysplasia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Multiple epiphyseal dysplasia containing 5 core candidate genes and altogether 11 curated genes according to the clinical signs

ID
MP5544
Number of genes
11 Accredited laboratory test
Examined sequence length
10,1 kb (Core-/Core-canditate-Genes)
28,6 kb (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
COL9A22070NM_001852.4AD
COL9A32055NM_001853.4AD
COMP2274NM_000095.3AD
MATN31461NM_002381.5AD, AR
SLC26A22220NM_000112.4AR
CANT11206NM_138793.4AR
CHST31440NM_004273.5AR
COL11A25211NM_080680.3AR
COL2A14464NM_001844.5AD
COL9A12766NM_001851.6AD
EIF2AK33351NM_004836.7AR

Informations about the disease

Synonyms
  • Alias: Polyepiphyseal dysplasia
  • Allelic: Deafness, AR 53 (COL11A2)
  • Allelic: Deafness, Ad 13 (COL11A2)
  • Allelic: Desbuquois dysplasia 1 (CANT1)
  • Allelic: Osteoarthritis susceptibility 2 (MATN3)
  • Allelic: Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
  • Allelic: Stickler syndrome, type I (COL2A1)
  • Allelic: Stickler syndrome, type IV (COL9A1)
  • Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
  • Achondrogenesis, type II or hypochondrogenesis (COL2A1)
  • Alias: Multiple epiphysäre Dysplasie
  • Avascular necrosis of the femoral head (COL2A1)
  • Czech dysplasia (COL2A1)
  • Epiphyseal dysplasia, multiple, 5 (MATN3)
  • Epiphyseal dysplasia, multiple, 6 (COL9A1)
  • Epiphyseal dysplasia, multiple, 7 (CANT1)
  • Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
  • Fibrochondrogenesis 2 (COL11A2)
  • Kniest dysplasia (COL2A1)
  • Legg-Calve-Perthes disease (COL2A1)
  • Osteoarthritis with mild chondrodysplasia (COL2A1)
  • Otospondylomegaepiphyseal dysplasia, AD (COL11A2)
  • Otospondylomegaepiphyseal dysplasia, AR (COL11A2)
  • Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
  • Spondyloepimetaphyseal dysplasia congenita (COL2A1)
  • Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MATN3)
  • Spondyloepimetaphyseal dysplasia, Strudwick type (COL2A1)
  • Spondyloepiphyseal dysplasia tarda (TRAPPC2)
  • Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3)
  • Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
  • Spondyloperipheral dysplasia (COL2A1)
  • Wolcott-Rallison syndrome (EIF2AK3)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined