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

IllnessEhlers-Danlos syndrome, vascular type


Short information

Curated single gene sequence analysis according to the clinical suspicion Ehlers-Danlos syndrome, vascular type

Number of genes
1 Accredited laboratory test
Examined sequence length
4,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
COL3A14401NM_000090.4AD, AR

Informations about the disease

Clinical Comment

The different types of Ehlers-Danlos syndrome form a heterogeneous group of diseases characterised by fragility of the soft connective tissue and manifest themselves in the skin, ligaments, joints, blood vessels and/or internal organs. The clinical spectrum is very diverse and ranges from mild skin and joint hypermobility to severe physical disability and life-threatening vascular complications. An overlap with osteogenesis imperfecta is observed. Diseases in this group include classic Ehlers-Danlos syndrome (EDS), musculo-contractival EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparax EDS, periodontal EDS, X-linked EDS, brittle corneal syndrome, classic type 1 and type 2 EDS, cardiac valve EDS, spondylodysplastic EDS, myopathic EDS and kyphoscoliotic EDS.

Reference: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=DE&data_id=13266&Disease_Disease_Search_diseaseGroup=ehlers-danlos&Disease_Disease_Search_diseaseType=Pat&Krankheite(n)/Disease Group=Ehlers-Danlos Syndrome&title=Ehlers-Danlos Syndrome&search=Disease_Search_Simple


  • Alias: Ehlers-Danlos syndrome type IV
  • Alias: Ehlers-Danlos syndrome, vascularType, type III
  • Allelic: Polymicrogyria with or without vascular-type EDS
  • Ehlers-Danlos classic/vascular type (COL3A1)
Heredity, heredity patterns etc.
  • AD
  • AR
ICD10 Code

Bioinformatics and clinical interpretation

No text defined