ErkrankungLegius-Syndrom; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Legius-Syndrom mit zusammen genommen 31 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
LP7113
Anzahl Gene
29
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,4 kb (Core-/Basis-Gene)
83,3 kb (Erweitertes Panel)
83,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
SPRED1 | 1335 | AD und/oder Sus | |
BLM | 4254 | AR und/oder Sus | |
BRAF | 2301 | AD und/oder SMu und/oder Sus | |
BRCA2 | 10257 | AD und/oder AR und/oder SMu und/oder Sus | |
BRIP1 | 3750 | AD und/oder Sus | |
FANCA | 4368 | AR und/oder Sus | |
FANCB | 2580 | XLR und/oder Sus | |
FANCC | 1677 | AR und/oder Sus | |
FANCE | 1611 | AR und/oder Sus | |
FANCF | 1125 | AR und/oder Sus | |
FANCG | 1869 | AR und/oder Sus | |
FANCI | 3987 | AR und/oder Sus | |
HRAS | 570 | AD und/oder SMu und/oder Sus | |
KRAS | 567 | AD und/oder SMu und/oder Sus | |
LZTR1 | 2523 | AD und/oder AR und/oder SMu | |
MAP2K1 | 1182 | AD | |
MLH1 | 2271 | AD und/oder AR und/oder Sus | |
MSH2 | 2805 | AD und/oder AR und/oder Sus | |
MSH6 | 4083 | AD und/oder AR und/oder Sus | |
NF1 | 8457 | AD und/oder SMu und/oder Sus | |
NRAS | 570 | AD und/oder SMu und/oder Sus | |
PMS2 | 2589 | AR und/oder Sus | |
PTEN | 1212 | AD und/oder SMu und/oder Sus | |
PTPN11 | 1782 | AD und/oder SMu | |
RAF1 | 1947 | AD | |
RIT1 | 660 | AD | |
SOS1 | 4002 | AD | |
TSC1 | 3495 | AD und/oder Sus | |
TSC2 | 5424 | AD und/oder Sus |
Infos zur Erkrankung
Synonyme
- Alias: Neurofibromatose 1-ähnliches Syndrom
- Alias: Neurofibromatosis 1-like syndrome
- Bloom syndrome (BLM)
- Cardiofaciocutaneous syndrome 2 (KRAS)
- Cardiofaciocutaneous syndrome 3 (MAP2K1)
- Costello syndrome (HRAS)
- 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)
- Fibrous dysplasia/McCune-Albright syndrome (GNAS)
- LEOPARD syndrome 1 (PTPN11)
- LEOPARD syndrome 2 (RAF1)
- LEOPARD syndrome 3 (BRAF)
- Legius syndrome (SPRED1)
- Mismatch repair cancer syndrome 1 (MLH1)
- Mismatch repair cancer syndrome 2 (MSH2)
- Mismatch repair cancer syndrome 3 (MSH6)
- Mismatch repair cancer syndrome 4 (PMS2)
- Neurofibromatosis, type 1 (NF1)
- Neurofibromatosis-Noonan syndrome (NF1)
- Noonan syndrome 1 (PTPN11)
- Noonan syndrome 10 (LZTR1)
- Noonan syndrome 2 (LZTR1)
- Noonan syndrome 3 (KRAS)
- Noonan syndrome 4 (SOS1)
- Noonan syndrome 5 (RAF1)
- Noonan syndrome 6 (NRAS)
- Noonan syndrome 7 (BRAF)
- Noonan syndrome 8 (RIT1)
- PTEN hamartoma tumor syndrome: Cowden, Bannayan-Riley-Ruvalcaba syndrome (PTEN)
- Tuberous sclerosis-1 (TSC1)
- Tuberous sclerosis-2 (TSC2)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR und/oder SMu
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder AR und/oder Sus
- AD und/oder SMu
- AD und/oder SMu und/oder Sus
- AD und/oder Sus
- AR und/oder Sus
- XLR und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q85.8
Bioinformatik und klinische Interpretation
Kein Text hinterlegt