English
Klinische FragestellungWarsaw-Breakage-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Warsaw-Breakage-Syndrom mit 1 "core"-Gen, 3 "core candidate"-Genen bzw. zusammen genommen 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
WP6633
Anzahl Gene
20
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
14,1 kb (Core-/Core-canditate-Gene)
67,2 kb (Erweitertes Panel: inkl. additional genes)
67,2 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ESCO2 | 1806 | NM_001017420.3 | AR | |
| NBN | 2265 | NM_002485.5 | AR | |
| PCNT | 10011 | NM_006031.6 | AR | |
| BRCA2 | 10257 | NM_000059.4 | AR | |
| BRIP1 | 3750 | NM_032043.3 | AR | |
| ERCC4 | 2751 | NM_005236.3 | AR | |
| FANCA | 4368 | NM_000135.4 | AR | |
| FANCB | 2580 | NM_001018113.3 | XL | |
| FANCC | 1677 | NM_000136.3 | AR | |
| FANCE | 1611 | NM_021922.3 | AR | |
| FANCF | 1125 | NM_022725.4 | AR | |
| FANCG | 1869 | NM_004629.2 | AR | |
| FANCI | 3987 | NM_001113378.2 | AR | |
| FANCL | 1128 | NM_018062.4 | AR | |
| FANCM | 6147 | NM_020937.4 | AR | |
| PALB2 | 3561 | NM_024675.4 | AR | |
| RAD51 | 1023 | NM_001164269.2 | AD | |
| RAD51C | 1131 | NM_058216.3 | AR | |
| SLX4 | 5505 | NM_032444.4 | AR | |
| UBE2T | 594 | NM_014176.4 | AR |
Infos zur Erkrankung
Synonyme
- Alias: Warsaw syndrome
- Allelic: Aplastic anemia (NBN)
- Allelic: Juberg-Hayward syndrome (ESCO2)
- Allelic: Leukemia, acute lymphoblastic (NBN)
- Allelic: Mirror movements 2 (RAD51)
- Allelic: Wilms tumor (BRC2)
- Allelic: XFE progeroid syndrome (ERCC4)
- Allelic: Xeroderma pigmentosum, group F (ERCC4)
- Allelic: Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
- Fanconi anemia, complementation group A (FANCA)
- Fanconi anemia, complementation group B (FANCB)
- Fanconi anemia, complementation group C (FANCC)
- Fanconi anemia, complementation group D1 (BRCA2)
- Fanconi anemia, complementation group D2 (FANCD2)
- Fanconi anemia, complementation group E (FANCE)
- Fanconi anemia, complementation group F (FANCF)
- Fanconi anemia, complementation group G (FANCG)
- Fanconi anemia, complementation group I (FANCI)
- Fanconi anemia, complementation group J (BRIP1)
- Fanconi anemia, complementation group L (FANCL)
- Fanconi anemia, complementation group N (PALB2)
- Fanconi anemia, complementation group O (RAD51C)
- Fanconi anemia, complementation group P (SLX4)
- Fanconi anemia, complementation group Q (ERCC4)
- Fanconi anemia, complementation group R (RAD51)
- Fanconi anemia, complementation group T (UBE2T)
- Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
- Nijmegen breakage syndrome (NBN)
- Roberts-SC phocomelia syndrome (ESCO2)
- Warsaw breakage syndrome (DDX11)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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