Klinische FragestellungMakrothrombozytopenien, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Makrothrombozytopenien mit 12 "core candidate"-Genen bzw. zusammen genommen 36 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
TP4536
Anzahl Gene
20
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
27,5 kb (Core-/Core-canditate-Gene)
47,0 kb (Erweitertes Panel: inkl. additional genes)
47,0 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
ACTN1 | 2745 | NM_001130004.2 | AD | |
DIAPH1 | 3819 | NM_005219.5 | AD | |
FLI1 | 1359 | NM_002017.5 | AD, AR | |
GFI1B | 993 | NM_004188.8 | AD, AR | |
GP1BA | 1959 | NM_000173.7 | AD, AR | |
GP1BB | 621 | NM_000407.5 | AR | |
GP9 | 534 | NM_000174.5 | AR | |
ITGA2B | 3120 | NM_000419.5 | AD, AR | |
ITGB3 | 2367 | NM_000212.3 | AD, AR | |
MYH9 | 5883 | NM_002473.6 | AD | |
SLFN14 | 2743 | NM_001129820.2 | AD | |
TUBB1 | 1356 | NM_030773.4 | AD, AR | |
ANO6 | 2733 | NM_001025356.3 | AR | |
GP6 | 1863 | NM_001083899.2 | AR | |
NBEAL2 | 8265 | NM_015175.3 | AR | |
PLAU | 1245 | NM_001145031.3 | AD | |
PRKACG | 1056 | NM_002732.4 | AR | |
RASGRP2 | 1830 | NM_153819.1 | AR | |
RUNX1 | 1443 | NM_001754.5 | AD, Gen Fusion | |
TBXA2R | 1032 | NM_001060.6 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Kongenitale Thrombozytopenie in Verbindung mit dem Vorhandensein großer Thrombozyten
Synonyme
- Alias: Macrothrombocytopenia (and hearing loss)
- Allelic: Alzheimer disease, late-onset, susceptibility to (PLAU)
- Allelic: Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to (TRPM7)
- Allelic: Cardiac valvular dysplasia, XL (FLNA)
- Allelic: Congenital short bowel syndrome (FLNA)
- Allelic: Deafness, AD 17 (MYH9)
- Allelic: Dystonia, juvenile-onset (ACTB)
- Allelic: FG syndrome 2 (FLNA)
- Allelic: Frontometaphyseal dysplasia 1 (FLNA)
- Allelic: Gallbladder disease 4 (ABCG8)
- Allelic: Heterotopia, periventricular, 1 (FLNA)
- Allelic: Leukemia, acute myeloid (RUNX1)
- Allelic: Melnick-Needles syndrome (FLNA)
- Allelic: Myocardial infarction, susceptibility to (ITGB3)
- Allelic: Nonaka myopathy (GNE)
- Allelic: Nonarteritic anterior ischemic optic neuropathy, susceptibility to (GP1BA)
- Allelic: Otopalatodigital syndrome, type I (FLNA)
- Allelic: Otopalatodigital syndrome, type II (FLNA)
- Allelic: Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
- Allelic: Terminal osseous dysplasia (FLNA)
- Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
- 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, 7; Scott sydrome (ANO6)
- Bleeding disorder, platelet-type, 11 (GP6)
- Bleeding disorder, platelet-type, 13, susceptibility to (TBXA2R)
- Bleeding disorder, platelet-type, 15 (ACTN1)
- Bleeding disorder, platelet-type, 16, AD (ITGA2B, ITGB3)
- 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)
- Deafness, AD 1, with/-out thrombocytopenia (DIAPH1)
- Giant platelet disorder, isolated (GP1BB)
- Glanzmann thrombasthenia (ITGA2B, ITGB3)
- Gray-Platelet syndrome (NBEAL2)
- Intestinal pseudoobstruction, neuronal (FLNA)
- Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
- Macrothrombocytopenia + granulocyte inclusions with/-out nephritis/sensorineural hearing loss (MYH9)
- Macrothrombocytopenia [panelapp] (TRPM7)
- Macrothrombocytopenia, AD, TUBB1-related (TUBB1)
- Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
- Purpura, posttransfusion (ITGB3)
- Quebec platelet disorder (PLAU)
- Radioulnar synostosis + amegakaryocytic thrombocytopenia 1 (HOXA11)
- Radioulnar synostosis + amegakaryocytic thrombocytopenia 2 (MECOM)
- Sialuria (GNE)
- Sitosterolemia 1 (ABCG8)
- Sitosterolemia 2 (ABCG5)
- Takenouchi-Kosaki [macrothrombocytopenia + MR] syndrome (CDC42)
- Thrombocythemia 1 (THPO)
- Thrombocytopenia 2 (ANKRD26)
- Thrombocytopenia 5 (ETV6)
- Thrombocytopenia 6 (SRC)
- Thrombocytopenia with beta-thalassemia, XL (GATA1)
- Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
- Thrombocytopenia, anemia + myelofibrosis (MPIG6B)
- Thrombocytopenia, neonatal alloimmune (ITGB3)
- Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
- von Willebrand disease, platelet-type (GP1BA)
- von Willebrand disease, types 1, 2A, 2B, 2M, 2N, 3 (VWF)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- Gen Fusion
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D69.4-
Bioinformatik und klinische Interpretation
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