English
Klinische FragestellungNetzhaut-Ablösung, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Netzhaut-Ablösung mit 7 "core candidate"-Genen bzw. zusammen genommen 23 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
NP0680
Anzahl Gene
18
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
17,7 kb (Core-/Core-canditate-Gene)
49,5 kb (Erweitertes Panel: inkl. additional genes)
49,5 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
{Sanger]
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| CAPN5 | 1923 | NM_004055.5 | AD | |
| CHM | 1962 | NM_000390.4 | XL | |
| COL18A1 | 4560 | NM_001379500.1 | AR | |
| EFEMP1 | 1482 | NM_001039348.3 | AD | |
| LRP5 | 4848 | NM_002335.4 | AD, AR | |
| TSPAN12 | 918 | NM_012338.4 | AD | |
| VCAN | 1968 | NM_004385.5 | AD | |
| ATOH7 | 459 | NM_145178.4 | AR | |
| COL11A1 | 5421 | NM_001854.4 | n.k. | |
| COL2A1 | 4464 | NM_001844.5 | AD | |
| COL9A1 | 2766 | NM_001851.6 | AR | |
| CTNNB1 | 2346 | NM_001904.4 | AD | |
| FBN1 | 8616 | NM_000138.5 | AD | |
| FZD4 | 1614 | NM_012193.4 | AD | |
| NDP | 402 | NM_000266.4 | XLR | |
| P3H2 | 1584 | NM_001134418.2 | AR | |
| TUBGCP4 | 2001 | NM_014444.5 | AR | |
| ZNF408 | 2163 | NM_024741.3 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Nicht-syndromische Form der Vitreoretinopathie mit Netzhautrissen aufgrund eines abnormalen Glaskörpers, die häufig mit Refraktionsfehlern einhergehen; keine Anzeichen/Symptome des Stickler-Syndroms
Synonyme
- Alias: [Rhegmatogenous] retinal detachment
- Allelic: Acromicric dysplasia (FBN1)
- Allelic: Bestrophinopathy, AR (BEST1)
- Allelic: Ectopia lentis, familial (FBN1)
- Allelic: Epiphyseal dysplasia, multiple, 2 (COL9A2)
- Allelic: Epiphyseal dysplasia, multiple, 6 (COL9A1)
- Allelic: Fibrochondrogenesis 1 (COL11A1)
- Allelic: Geleophysic dysplasia 2 (FBN1)
- Allelic: Leber congenital amaurosis 16 (KCNJ13)
- Allelic: Macular dystrophy, vitelliform, 2 (BEST1)
- Allelic: Marfan lipodystrophy syndrome (FBN1)
- Allelic: Microcornea, rod-cone dystrophy, cataract + posterior staphyloma (BEST1)
- Allelic: Retinitis pigmentosa, concentric (BEST1)
- Allelic: Retinitis pigmentosa-50 (BEST1)
- Allelic: Stiff skin syndrome (FBN1)
- Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
- Choroideremia (CHM)
- Doyne honeycomb degeneration of retina (EFEMP1)
- Exudative vitreoretinopathy 1 (FZD4)
- Exudative vitreoretinopathy 2, XL (NDP)
- Exudative vitreoretinopathy 4 (LRP5)
- Exudative vitreoretinopathy 5 (TSPAN12)
- Exudative vitreoretinopathy 6 (ZNF408)
- Exudative vitreoretinopathy 7 (CTNNB1)
- Glaucoma, primary closed-angle (COL18A1)
- Knobloch syndrome, type 1 (COL18A1)
- MASS syndrome (FBN1)
- Marfan syndrome (FBN1)
- Marshall syndrome (COL11A1)
- Microcephaly + chorioretinopathy, AR, 3 (TUBGCP4)
- Myopia 23, AR (LRPAP1)
- Myopia, high, with cataract + vitreoretinal degeneration (P3H2)
- Norrie disease (NDP)
- Persistent hyperplastic primary vitreous, AR (ATOH7)
- Retinoschisis (RS1)
- Snowflake vitreoretinal degeneration (KCNJ13)
- Stickler syndrome, type I (COL2A1)
- Stickler syndrome, type I, nonsyndromic ocular (COL2A1)
- Stickler syndrome, type II (COL11A1)
- Stickler syndrome, type IV (COL9A1)
- Stickler syndrome, type V (COL9A2)
- Vitreoretinochoroidopathy (BEST1)
- Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
- Vitreoretinopathy, neovascular inflammatory (CAPN5)
- Wagner syndrome 1 (VCAN)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
- XLR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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