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

IllnessSkeletal dysplasia, recessive; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Skeletal dysplasia, recessive, according to the clinical signs as evaluated according to the HPO terms supplied.

ID
SP0014
Number of genes
1 Accredited laboratory test
Examined sequence length
1.000,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
auf Anfrage
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
TecExom999999
  • No OMIM-Gs linked
n.k.

Informations about the disease

Clinical Comment

Large group of diseases - no ORPHA#s

 

Synonyms
  • Alias: Skeletal dysplasia
  • Achondrogenesis Ib (SLC26A2)
  • Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
  • Atelosteogenesis, type II (SLC26A2)
  • Bruck syndrome 1 (FKBP10)
  • Bruck syndrome 2 (PLOD2)
  • Chondrodysplasia punctata, XLR (ARSE)
  • De la Chapelle dysplasia (SLC26A2)
  • Diastrophic dysplasia (SLC26A2)
  • Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
  • Epiphyseal dysplasia, multiple, 4 (SLC26A2)
  • Osteogenesis imperfecta, type VII (CRTAP)
  • Osteogenesis imperfecta, type XI (FKBP10)
  • Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
  • Schneckenbecken dysplasia (SLC35D1)
  • Short-rib thoracic dysplasia 11 with/-out polydactyly (DYNC2I2)
  • Spondylocostal dysostosis 1, AR (DLL3)
Heredity, heredity patterns etc.
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined