IllnessLebersche kongenitale Amaurosis/EOSRD

Summary

Short information

A comprehensive panel for LCA/EOSRD differential diagnosis containing 22 guideline-curated genes as well as altogether 48 curated genes according to the clinical diagnosis

LP9753

Number of genes

0 Accredited laboratory test

Examined sequence length

0,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

No genes linked

Informations about the disease

Clinical Comment

LP9753

Synonyms

Achromatopsia 2 (CNGA3)
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)

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

H35.5

Bioinformatics and clinical interpretation

No text defined