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

IllnessBicuspid aortic valve, differential diagnosis


Short information

Comprehensive differential diagnostic panel for bicuspid aortic valve comprising 3 or altogether 7 curated genes according to the clinical signs

Number of genes
4 Accredited laboratory test
Examined sequence length
12,3 kb (Core-/Core-canditate-Genes)
13,4 kb (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
GATA51194NM_080473.5AD, AR

Informations about the disease

Clinical Comment

Abnormal two-leaflet aortic valve in at least 2 first-degree relatives, frequently asymptomatic/associated with progressive aortic valve disease (aortic regurgitation, aortic stenosis, typically due to valve calcification), concomitant aortopathy (aortic dilation, aortic aneurysm and/or dissection)


  • Allelic: Adams-Oliver syndrome 5 (NOTCH1)
  • Allelic: Atrial septal defect 7, with/-out AV conduction defects (NKX2-5)
  • Allelic: Conotruncal heart malformations, variable (NKX2-5)
  • Allelic: Craniosynostosis 7, susceptibility to (SMAD6)
  • Allelic: Hypoplastic left heart syndrome 2 (NKX2-5)
  • Allelic: Hypothyroidism, congenital nongoitrous, 5 (NKX2-5)
  • Allelic: Moyamoya disease 5 (ACTA2)
  • Allelic: Multisystemic smooth muscle dysfunction syndrome (ACTA2)
  • Allelic: Radioulnar synostosis, nonsyndromic (SMAD6)
  • Allelic: Tetralogy of Fallot (NKX2-5)
  • Allelic: Ventricular septal defect 3 (NKX2-5)
  • Aortic aneurysm, familial thoracic 10 (LOX)
  • Aortic aneurysm, familial thoracic 6 (ACTA2)
  • Aortic valve disease 1 (NOTCH1)
  • Aortic valve disease 2 (SMAD6)
  • Aortic valve disease 3 (ROBO4)
  • Congenital heart defects, multiple types, 5 (GATA5)
  • Familial thoracic aortic aneurysm + aortic dissection [panelapp] (MAT2A)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined