Klinische FragestellungThrombozytenfunktions-Störungen/Thrombozytopathien
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Thrombozytenfunktions-Störungen/ Thrombozytopathien mit 10 Leitlinien-kuratierten bzw. "expert opinion"-kuratierten Genen sowie insgesamt 59 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
TP5444
Anzahl Gene
17
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
22,6 kb (Core-/Core-canditate-Gene)
35,2 kb (Erweitertes Panel: inkl. additional genes)
35,2 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
FERMT3 | 1992 | NM_031471.6 | AR | |
GP1BA | 1959 | NM_000173.7 | AD, AR | |
GP1BB | 621 | NM_000407.5 | AD, AR | |
GP9 | 534 | NM_000174.5 | AR | |
ITGA2B | 3120 | NM_000419.5 | AD, AR | |
ITGB3 | 2367 | NM_000212.3 | AD, AR | |
NBEAL2 | 8265 | NM_015175.3 | AR | |
P2RY12 | 1029 | NM_022788.5 | AR | |
PLAU | 1245 | NM_001145031.3 | AD | |
RUNX1 | 1443 | NM_001754.5 | AD | |
ACTN1 | 2745 | NM_001130004.2 | AD | |
ANO6 | 2733 | NM_001025356.3 | AR | |
FLI1 | 1359 | NM_002017.5 | AD, AR | |
GFI1B | 993 | NM_004188.8 | AD, AR | |
GP6 | 1863 | NM_001083899.2 | AR | |
RASGRP2 | 1830 | NM_153819.1 | AR | |
TBXA2R | 1032 | NM_001060.6 | AD, AR |
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: Arthrogryposis, renal dysfunction, and cholestasis 1 (VPS§§B)
- Allelic: Cardiac valvular dysplasia, XL (FLNA)
- Allelic: Cholestasis, progressive familial intrahepatic, 12 (VPS§§B)
- Allelic: Deafness, AD 17 (MYH9)
- Allelic: FG syndrome 2 (FLNA)
- Allelic: Frontometaphyseal dysplasia 1 (FLNA)
- Allelic: Gallbladder disease 4 (ABCG8)
- Allelic: Giant platelet disorder, isolated (GP1BB)
- Allelic: Hemolytic anemia due to elevated adenosine deaminase (GATA1)
- Allelic: Heterotopia, periventricular, 1 (FLNA)
- Allelic: Immunodeficiency 10 (STIM1)
- Allelic: Keratoderma-ichthyosis-deafness syndrome, AR (VPS§§B)
- Allelic: Leukemia, acute myeloid (GP1BA)
- Allelic: Leukemia, acute myeloid (RUNX1)
- Allelic: Melnick-Needles syndrome (FLNA)
- Allelic: Myopathy, tubular aggregate, 1 (STIM1)
- Allelic: Neutropenia, severe congenital, XL (WAS)
- Allelic: Nonarteritic anterior ischemic optic neuropathy, susceptibility to (GP1BA)
- Allelic: Otopalatodigital syndrome, type I (FLNA)
- Allelic: Otopalatodigital syndrome, type II (FLNA)
- Allelic: Purpura, posttransfusion (ITGB3)
- Allelic: Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
- Allelic: Sialuria (GNE)
- Allelic: Terminal osseous dysplasia (FLNA)
- Allelic: Thrombocytopenia, neonatal alloimmune (ITGB3)
- Allelic: Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
- Anemia, XL, +/- neutropenia and/or platelet abnormalities (GATA1)
- Arthrogryposis, renal dysfunction, cholestasis 2 (VIPAS39)
- Baraitser-Winter syndrome 1 (ACTB)
- 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/OMIM] (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)
- Chediak-Higashi syndrome (LYST)
- Congenital short bowel syndrome (FLNA)
- Deafness, AD 1, +/- thrombocytopenia (DIAPH1)
- Dystonia, juvenile-onset (ACTB)
- Erythrokeratodermia variabilis et progressiva 4 (KDSR)
- Gastrointestinal ulceration, recurrent, with dysfunctional platelets (PLA2G4A)
- Ghosal hematodiaphyseal syndrome (TBXAS1)
- Glanzmann thrombasthenia (ITGA2B, ITGA3)
- Gray-platelet syndrome (NBEAL2)
- Hemophagocytic lymphohistiocytosis, familial, 5, +/- microvillus inclusion disease (STXBP2)
- Hermansky-Pudlak syndrome 1, 3, 4, 5, 6 (HPS1, HPS3, HPS4, HPS5, HPS6)
- Hermansky-Pudlak syndrome 10 (AP3D1)
- Hermansky-Pudlak syndrome 7 (DTNBP1)
- Hermansky-Pudlak syndrome 8 (BLOC1S3)
- Hermansky-Pudlak syndrome 9 (BLOC1S6)
- Immunodeficiency 71 with inflammatory disease + congenital thrombocytopenia (ARPC1B)
- Intestinal pseudoobstruction, neuronal (FLNA)
- Leukocyte adhesion deficiency type III (FERMT3)
- Macrothrombocytopenia + granulocyte inclusions +/- nephritis or sensorineural hearing loss (MYH9)
- Macrothrombocytopenia, isolated, 1, AD (TUBB1)
- Nonaka myopathy (GNE)
- Platelet disorder, familial, with associated myeloid malignancy (GP1BA)
- Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
- Quebec platelet disorder (PLAU)
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (MECOM)
- Scott syndrome (ANO6)
- Sitosterolemia 1 (ABCG8)
- Sitosterolemia 2 (ABCG5)
- Stormorken syndrome (STIM1)
- Takenouchi-Kosaki syndrome (CDC42)
- Thrombocythemia 1 (THPO)
- Thrombocythemia 2 (MPL)
- Thrombocytopenia 2 (ANKRD26)
- Thrombocytopenia 3 (FYB1)
- Thrombocytopenia 4 (CYCS)
- Thrombocytopenia 5 (ETV6)
- Thrombocytopenia 6 (SRC)
- Thrombocytopenia with beta-thalassemia, XL (GATA1)
- Thrombocytopenia, XL (WAS)
- Thrombocytopenia, XL, +/- dyserythropoietic anemia (GATA1)
- Thrombocytopenia, XL, intermittent (WAS)
- Thrombocytopenia, anemia + myelofibrosis (MPIG6B)
- Thrombocytopenia, congenital amegakaryocytic (MPL)
- Thrombocytopenia-absent radius syndrome (RBM8A)
- Wiskott-Aldrich syndrome (WAS)
- von Willebrand disease, platelet-type (GP1BA)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D69.1
Bioinformatik und klinische Interpretation
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