©Sergey Nivens/stock.adobe.com
GenetischePanel-Diagnostik

ErkrankungBranchio-oculo-faziales Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Branchio-oculo-faziales Syndrom mit 12 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
BP9945
Anzahl Gene
13 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,3 kb (Core-/Basis-Gene)
25,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
TFAP2A1296AD
CHD78994AD
EDN3717AD und/oder AR
EDNRB1329AD und/oder AR und/oder Sus
EYA11779AD
MITF1260AD und/oder AR und/oder Sus
PAX31440AD und/oder AR und/oder SMu und/oder Gen Fusion
SIX1855AD
SIX52220AD
SNAI1798
  • Keine OMIM-Gs verknüpft
AD und/oder AR
SNAI2807AD und/oder AR
SOX101401AD
TP632043AD und/oder Sus

Infos zur Erkrankung

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu und/oder Gen Fusion
  • AD und/oder AR und/oder Sus
  • AD und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
F84.-

Bioinformatik und klinische Interpretation

Kein Text hinterlegt