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

IllnessBranchio-oculo-facial syndrome, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for branchio-oculo-facial syndrome comprising 13 curated genes according to the clinical signs

ID
BP9945
Number of genes
13 Accredited laboratory test
Examined sequence length
1,3 kb (Core-/Core-canditate-Genes)
25,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
TFAP2A1296NM_001032280.3AD
CHD78994NM_017780.4AD
EDN3717NM_207034.3AD, AR
EDNRB1329NM_000115.5AD, AR
EYA11779NM_000503.6AD
MITF1260NM_000248.4AD, AR
PAX31440NM_181457.4AD, AR
SIX1855NM_005982.4AD
SIX52220NM_175875.5AD
SNAI1798NM_005985.4AD, AR
SNAI2807NM_003068.5AR
SOX101401NM_006941.4AD
TP632043NM_003722.5AD

Informations about the disease

Synonyms
  • Allelic: ABCD syndrome (EDNRB)
  • Allelic: ADULT syndrome (TP63)
  • Allelic: Anterior segment anomalies with/-out cataract (EYA1)
  • Allelic: Central hypoventilation syndrome, congenital (EDN3)
  • Allelic: Deafness, AD 23 (SIX1)
  • Allelic: Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (TP63)
  • Allelic: Hirschsprung disease, susceptibility to, 2 (EDNRB)
  • Allelic: Hirschsprung disease, susceptibility to, 4 (EDN3)
  • Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Allelic: Limb-mammary syndrome (TP63)
  • Allelic: Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
  • Allelic: Piebaldism (SNAI2)
  • Allelic: Rapp-Hodgkin syndrome (TP63)
  • Allelic: Rhabdomyosarcoma 2, alveolar (PAX3)
  • Allelic: Split-hand/foot malformation 4 (TP63)
  • Allelic: Tietz albinism-deafness syndrome (MITF)
  • Branchiooculofacial syndrome (TFAP2A)
  • Branchiootic syndrome 1 (EYA1)
  • Branchiootic syndrome 3 (SIX1)
  • Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
  • Branchiootorenal syndrome 2 (SIX5)
  • CHARGE syndrome (CHD7)
  • COMMAD syndrome (MITF)
  • Craniofacial-deafness-hand syndrome (PAX3)
  • Hay-Wells syndrome (TP63)
  • Orofacial cleft 8 (TP63)
  • Otofaciocervical syndrome (EYA1)
  • PCWH syndrome (SOX10)
  • Waardenburg syndrome, type 1 (PAX3)
  • Waardenburg syndrome, type 2A (MITF)
  • Waardenburg syndrome, type 2D (SNAI2)
  • Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
  • Waardenburg syndrome, type 3 (PAX3)
  • Waardenburg syndrome, type 4A (EDNRB)
  • Waardenburg syndrome, type 4B (EDN3)
  • Waardenburg syndrome, type 4C (SOX10)
  • Waardenburg syndrome/ocular albinism, digenic (MITF)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined