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

IllnessCampomelic dysplasia, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for campomelic dysplasia comprising 7 curated genes according to the clinical signs

ID
KP0320
Number of genes
7 Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
18,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • Amniotic fluid (after amnocentesis)
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SOX91530NM_000346.4AD
ALPL1575NM_000478.6AD, AR
COL1A14395NM_000088.4AD
COL1A24101NM_000089.4AD
COL2A14464NM_001844.5AD
FGFR32421NM_000142.5AD
RMRP300NR_003051.3AR

Informations about the disease

Synonyms
  • Allelic: Bone mineral density variation QTL, osteoporosis (COL1A1)
  • Allelic: Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
  • Allelic: Ehlers-Danlos syndrome, arthrochalasia type, 2 (COL1A2)
  • Allelic: Ehlers-Danlos syndrome, cardiac valvular type (COL1A2)
  • Allelic: Hypophosphatasia, adult (ALPL)
  • Allelic: Odontohypophosphatasia (ALPL)
  • Allelic: Osteoporosis, postmenopausal (COL1A2)
  • Acampomelic campomelic dysplasia (SOX9)
  • Achondroplasia (FGFR3)
  • Anauxetic dysplasia 1 (RMRP)
  • CATSHL syndrome (FGFR3)
  • Caffey disease (COL1A1)
  • Campomelic dysplasia (SOX9)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Cartilage-hair hypoplasia (RMRP)
  • Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 1 (COL1A1)
  • Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 2 (COL1A2)
  • Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Hypochondroplasia (FGFR3)
  • Hypophosphatasia, childhood (ALPL)
  • Hypophosphatasia, infantile (ALPL)
  • LADD syndrome (FGFR3)
  • Metaphyseal dysplasia without hypotrichosis (RMRP)
  • Muenke syndrome (FGFR3)
  • Osteogenesis imperfecta, type I-IV (COL1A1)
  • Osteogenesis imperfecta, type II-IV (COL1A2)
  • SADDAN (FGFR3)
  • Stickler syndrome, type I (COL2A1)
  • Stickler syndrome, type I, nonsyndromic ocular (COL2A1)
  • Thanatophoric dysplasia, type I-II (FGFR3)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined