English
ErkrankungThrombozytenfunktions-Störungen/Thrombozytopathien
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Thrombozytenfunktions-Störungen/ Thrombozytopathien mit 6 bzw. zusammen genommen 19 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
TP5444
Anzahl Gene
19
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
24,5 kb (Core-/Basis-Gene)
39,2 kb (Erweitertes Panel)
39,2 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 |
|---|---|---|---|
| FERMT3 | 1992 | AR | |
| GP1BA | 1959 | AD und/oder AR | |
| GP1BB | 621 | AR | |
| GP9 | 534 | AR | |
| ITGA2B | 3120 | AD und/oder AR | |
| ITGB3 | 2367 | AD und/oder AR | |
| NBEAL2 | 8265 | AR | |
| P2RY12 | 1029 | AR | |
| PLAU | 1245 | AD | |
| RASGRP2 | 1830 | AR | |
| RUNX1 | 1443 | AD und/oder Gen Fusion | |
| ACTN1 | 2745 | AD | |
| ANO6 | 2733 | AR | |
| EPHB2 | 2964 | AR | |
| FLI1 | 1359 | AD und/oder AR | |
| GFI1B | 993 | AD und/oder AR | |
| GP6 | 1863 | AR | |
| PRKACG | 1056 | AR | |
| TBXA2R | 1032 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von Krankheiten ohne spezielle ORPHA#; panel umfasst
Leukozytenadhäsionsmangel Typ III ORPHA:99844
AD Makrothrombozytopenie ORPHA:140957
Glanzmann-Thrombasthenie ORPHA:849
Fetale und neonatale Alloimmun-Thrombozytopenie ORPHA:853
Synonyme
- Allelic: Alzheimer disease, late-onset, susceptibility to (PLAU)
- Allelic: Giant platelet disorder, isolated (GP1BB)
- Allelic: Leukemia, acute myeloid (GP1BA)
- Allelic: Leukemia, acute myeloid (RUNX1)
- Allelic: Nonarteritic anterior ischemic optic neuropathy, susceptibility to (GP1BA)
- Allelic: Purpura, posttransfusion (ITGB3)
- Allelic: Thrombocytopenia, neonatal alloimmune (ITGB3)
- Allelic: Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
- Bernard-Soulier syndrome, type A1, AR + A2, AD (GP1BA)
- Bernard-Soulier syndrome, type B (GP1BB)
- Bernard-Soulier syndrome, type C (GP9)
- Bleeding disorder, platelet-type, 11 (GP6)
- Bleeding disorder, platelet-type, 12 [panelapp] (PTGS1)
- Bleeding disorder, platelet-type, 13, susceptibility to TBXA2R)
- Bleeding disorder, platelet-type, 15 (ACTN1)
- Bleeding disorder, platelet-type, 16, AD (ITGA2B, ITGA3)
- Bleeding disorder, platelet-type, 17 (GFI1B)
- Bleeding disorder, platelet-type, 18 (RASGRP2)
- Bleeding disorder, platelet-type, 19 PRKACG)
- Bleeding disorder, platelet-type, 20 (SLFN14)
- Bleeding disorder, platelet-type, 21 (FLI1)
- Bleeding disorder, platelet-type, 8 (P2RY12)
- Ghosal hematodiaphyseal syndrome (TBXAS1)
- Glanzmann thrombasthenia (ITGA2B, ITGA3)
- Gray-platelet syndrome (NBEAL2)
- Leukocyte adhesion deficiency type III (FERMT3)
- Platelet disorder, familial, with associated myeloid malignancy (GP1BA)
- Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
- Quebec platelet disorder (PLAU)
- Scott syndrome ANO6)
- von Willebrand disease, platelet-type (GP1BA)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder Gen Fusion
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D69.1
Bioinformatik und klinische Interpretation
Kein Text hinterlegt