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

IllnessWaardenburg-Shah syndrome


Short information

Three curated single gene sequence analyses according to the clinical suspicion ´Waardenburg-Shah syndrome

Number of genes
3 Accredited laboratory test
Examined sequence length
2,8 kb (Core-/Core-canditate-Genes)
3,5 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
EDNRB1329NM_000115.5AD, AR
EDN3717NM_207034.3AD, AR

Informations about the disease

Clinical Comment

Association of Waardenburg syndrome (sensorineural hearing loss + pigmentary abnormalities) + Hirschsprung disease (aganglionic megacolon)


  • ABCD syndrome: Albinism, Black lock, Cell migration disorder neurocytes gut, Deafness
  • PCWH: Periph. demyel. neuropathy, Central dysmyelin., Waardenburg syndr., Morbus Hirschsp.
  • Alias: Colonic aganglionosis (EDNRB)
  • Alias: Shah-Waardenburg syndrome (EDNRB)
  • Allelic: ABCD syndrome (EDNRB)
  • Allelic: Central hypoventilation syndrome, congenital (EDN3)
  • Allelic: Hirschsprung Disease, dominant [panelapp] (EDN3)
  • Allelic: Hirschsprung disease, susceptibility to, 2 (EDNRB)
  • Allelic: Hirschsprung disease, susceptibility to, 4 (EDN3)
  • Allelic: Long-segment Hirschsprung's disease (EDNRB)
  • Allelic: PCWH syndrome, incl. Hirschsprung disease, long-segment [panelapp] (SOX10)
  • Allelic: Short-segment Hirschsprung disease [panelapp] (EDN3, EDNRB)
  • Allelic: Total colonic aganglionosis [panelapp] (EDN3)
  • Allelic: Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
  • Waardenburg syndrome, type 4A; Waardenburg-Shah syndrome (EDNRB)
  • Waardenburg syndrome, type 4B (EDN3)
  • Waardenburg syndrome, type 4C; Waardenburg-Shah syndrome (SOX10)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined