English
Klinische FragestellungLegius-Syndrom; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Legius-Syndrom mit zusammen genommen 31 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
LP7113
Anzahl Gene
30
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,4 kb (Core-/Core-canditate-Gene)
84,5 kb (Erweitertes Panel: inkl. additional genes)
84,5 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 |
|---|---|---|---|---|
| SPRED1 | 1335 | NM_152594.3 | AD | |
| BLM | 4254 | NM_000057.4 | AR | |
| BRAF | 2301 | NM_004333.6 | AD | |
| BRCA2 | 10257 | NM_000059.4 | AR | |
| BRIP1 | 3750 | NM_032043.3 | AD | |
| 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 | |
| GNAS | 1185 | NM_000516.7; NM_016592.3; NM_080425.3 | AD, SMu | |
| HRAS | 570 | NM_005343.4 | AD | |
| KRAS | 567 | NM_004985.5 | AD | |
| LZTR1 | 2523 | NM_006767.4 | AD, AR | |
| MAP2K1 | 1182 | NM_002755.4 | AD | |
| MLH1 | 2271 | NM_000249.4 | AR | |
| MSH2 | 2805 | NM_000251.3 | AR | |
| MSH6 | 4083 | NM_000179.3 | AR | |
| NF1 | 8457 | NM_001042492.3 | AD | |
| NRAS | 570 | NM_002524.5 | AD | |
| PMS2 | 2589 | NM_000535.7 | AR | |
| PTEN | 1212 | NM_000314.8 | AD | |
| PTPN11 | 1782 | NM_002834.5 | AD | |
| RAF1 | 1947 | NM_002880.4 | AD | |
| RIT1 | 660 | NM_006912.6 | AD | |
| SOS1 | 4002 | NM_005633.4 | AD | |
| TSC1 | 3495 | NM_000368.5 | AD | |
| TSC2 | 5424 | NM_000548.5 | AD |
Infos zur Erkrankung
Synonyme
- Alias: Neurofibromatose 1-ähnliches Syndrom
- Alias: Neurofibromatosis 1-like syndrome
- Alias: Neurofibromatosis type 1-like syndrome (SPRED1)
- 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
- AR
- SMu
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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