©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

ErkrankungLebersche kongenitale Amaurose/Abiotrophie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Lebersche kongenitale Amaurose mit 4 bzw. 35 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
LP0140
Anzahl Gene
27 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
19,8 kb (Core-/Basis-Gene)
67,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CEP2907440AR und/oder Dig
CRB14221AD und/oder AR
GUCY2D3312AD und/oder AR
RDH12951AD und/oder AR
RPGRIP13861AR und/oder Ass
ADAMTS183666AR
AIPL11155AD und/oder AR
ALMS112504AR
CABP4828AR
CRX900AD
GDF61368AD und/oder AR
IFT1404389AR
IMPDH11800AD
IQCB11797AR
LCA52094AR
LRAT693AR
MERTK3000AR
NMNAT1840AR
OTX2870AD
POC1B1437AR
PRPH21041AD und/oder AR und/oder Dig
RD3588AR
ROM11056AD und/oder Dig
SPATA71704AR
TUBB4B1342
  • Keine OMIM-Gs verknüpft
AD
TULP11629AR
USP452510AR

Infos zur Erkrankung

Klinischer Kommentar

Netzhautdystrophie mit Erblindung und Reaktionen auf elektrophysiologische Stimulation unterhalb der Schwelle, schwere Sehbehinderung im 1. Lebensjahr

 

Synonyme
  • Alias: Amaurosis congenita of Leber, LCA
  • Alias: Amaurosis, Leber congenital
  • Alias: Congenital amaurosis of retinal origin
  • Alias: Congenital retinal blindness
  • Alias: Dysgenesis neuroepithelialis retinae
  • Alias: Hereditary epithelial dysplasia of retina
  • Alias: Hereditary retinal aplasia
  • Alias: Heredoretinopathia congenitalis
  • Alias: Leber abiotrophy
  • Alias: Leber congenital tapetoretinal degeneration
  • Alias: Retinal blindness, congenital
  • Allelic: Bardet-Biedl syndrome 14 (CEP290)
  • Allelic: Choroidal dystrophy, central areolar 1 (GUCY2D)
  • Allelic: Choroidal dystrophy, central areolar 2 (PRPH2)
  • Allelic: Cone-rod dystrophy 13 (RPGRIP1)
  • Allelic: Cranioectodermal dysplasia 4 (WDR19)
  • Allelic: Joubert syndrome 5 (CEP290)
  • Allelic: Klippel-Feil syndrome 1, AD (GDF6)
  • Allelic: Macular dystrophy, patterned, 1 (PRPH2)
  • Allelic: Macular dystrophy, vitelliform, 3 (PRPH2)
  • Allelic: Meckel syndrome 4 (CEP290)
  • Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
  • Allelic: Microphthalmia, isolated 4 (GDF6)
  • Allelic: Multiple synostoses syndrome 4 (GDF6)
  • Allelic: Nephronophthisis 13 (WDR19)
  • Allelic: Night blindness, congenital stationary, type 1I (GUCY2D)
  • Allelic: Senior-Loken syndrome 6 (CEP290)
  • Allelic: Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
  • Allelic: Snowflake vitreoretinal degeneration (KCNJ13)
  • Allelic: Spermatogenic failure 72 (WDR19)
  • Cone-rod dystrophy (AIPL1)
  • Cone-rod dystrophy 13 (RPGRIP1)
  • Cone-rod dystrophy 6 (GUCY2D)
  • Cone-rod retinal dystrophy 2 (CRX)
  • Hypotaurinemic retinal degeneration + cardiomyopathy (SLC6A6)
  • Leber congenital amaurosis 1 (GUCY2D)
  • Leber congenital amaurosis 10 (CEP290)
  • Leber congenital amaurosis 11 (IMPDH1)
  • Leber congenital amaurosis 12 (RD3)
  • Leber congenital amaurosis 13 (RDH12)
  • Leber congenital amaurosis 14 (LRAT)
  • Leber congenital amaurosis 15 (TULP1)
  • Leber congenital amaurosis 16 (KCNJ13)
  • Leber congenital amaurosis 18 (PRPH2)
  • Leber congenital amaurosis 19 (USP45)
  • Leber congenital amaurosis 2 (RPE65)
  • Leber congenital amaurosis 3 (SPATA7)
  • Leber congenital amaurosis 4 (AIPL1)
  • Leber congenital amaurosis 5 (LCA5)
  • Leber congenital amaurosis 6 (RPGRIP1)
  • Leber congenital amaurosis 7 (CRX)
  • Leber congenital amaurosis 8 (CRB1)
  • Leber congenital amaurosis 9 (NMNAT1)
  • Leber's amaurosis
  • Nephronophthisis 15 (CEP164)
  • Pigmented paravenous chorioretinal atrophy (CRB1)
  • Retinal dystrophy, early-onset severe (LRAT)
  • Retinitis pigmentosa 10 (IMPDH1)
  • Retinitis pigmentosa 12 (CRB1)
  • Retinitis pigmentosa 14 (TULP1)
  • Retinitis pigmentosa 20 (RPE65)
  • Retinitis pigmentosa 7 + digenic form (PRPH2)
  • Retinitis pigmentosa 7, digenic form (ROM1)
  • Retinitis pigmentosa 87 with choroidal involvement (RPE65)
  • Retinitis pigmentosa, juvenile (AIPL1)
  • Retinitis pigmentosa, juvenile (LRAT)
  • Retinitis pigmentosa, juvenile, AR (SPATA7)
  • Retinitis punctata albescens (PRPH2)
  • Senior-Loken syndrome 8 (WDR19)
  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developm. dis., LCA (NMNAT1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder Dig
  • AR
  • AR und/oder Ass
  • AR und/oder Dig
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H54.0

Bioinformatik und klinische Interpretation

Kein Text hinterlegt