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ErkrankungThrombozytopenien + Thrombozytopathien, hereditäre; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Thrombozytopenien + Thrombozytopathien mit 25 bzw. zusammen genommen 59 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
TP5445
Anzahl Gene
51 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
16,9 kb (Core-/Basis-Gene)
103,2 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
GP1BA1959AD und/oder AR
GP1BB621AR
GP9534AR
ITGA2B3120AD und/oder AR
ITGB32367AD und/oder AR
NBEAL28265AR
ABCG51956AR
ABCG82022AR
ACTB1128AD
ACTN12745AD
ACVRL11512AD und/oder Mult
ANKRD265133AD und/oder SMu
ANO62733AR
AP3B13138AR
ARPC1B1141AR
BLOC1S3609AR
BLOC1S6519AR
CDC42576AD
CYCS318AD
DIAPH13819AD und/oder AR
DTNBP1813AR
ETV61359Gen Fusion
FERMT31992AR
FLI11359AD und/oder AR
FYB12783AR
GATA11242XLR und/oder SMu
GFI1B993AD und/oder AR
GP61863AR
HOXA11942AD
HPS12103AR
HPS33015AR
HPS42127AR
HPS53048AR
HPS62328AR
MECOM3351AD
MPIG6B910AR
MPL1908AD und/oder AR und/oder SMu
MYH95883AD
PLA2G4A2250AR
PLAU1245AD
PRKACG1056AR
RASGRP21830AR
RUNX11443AD und/oder Gen Fusion
SLFN142743AD
SRC1611AD
STIM12058AD und/oder AR
TBXA2R1032AD
THBD1728AD
THPO1062AD
TUBB11356AD
WAS1509XLR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe heterogener Erkrankungen

 

Synonyme
  • Allelic: Alzheimer disease, late-onset, susceptibility to (PLAU)
  • Allelic: Anemia, XL, with/without neutropenia and/or platelet abnormalities (GATA1)
  • Allelic: Cardiac valvular dysplasia, XL (FLNA)
  • Allelic: Colon cancer, advanced, somatic (SRC)
  • Allelic: Deafness, AD 17 (MYH9)
  • Allelic: FG syndrome 2 (FLNA)
  • Allelic: Frontometaphyseal dysplasia 1 (FLNA)
  • Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 6 (THBD)
  • Allelic: Heterotopia, periventricular, 1 (FLNA)
  • Allelic: Leukemia, acute myeloid (RUNX1)
  • Allelic: Leukemia, acute myeloid, somatic (ETV6)
  • Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
  • Allelic: Melnick-Needles syndrome (FLNA)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Myelofibrosis with myeloid metaplasia, somatic (MPL)
  • Allelic: Myocardial infarction, susceptibility to (ITGB3)
  • Allelic: Neutropenia, severe congenital, XL (WASP)
  • 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: Terminal osseous dysplasia (FLNA)
  • Allelic: Thrombocytopenia, neonatal alloimmune (ITGB3)
  • Allelic: Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
  • Allelic: Wiskott-Aldrich syndrome (WASP)
  • Bernard-Soulier syndrome, type B (GP1BB)
  • Bernard-Soulier syndrome, type C (GP9)
  • Bernard-Soulier syndrome, types A1 [AR] + A2 [AD] (GP1BA)
  • Bleeding disorder, platelet-type, 1 [Bernard-Soulier syndrome] (GP9, GP1BA, GP1BB)
  • Bleeding disorder, platelet-type, 11 (GP6)
  • Bleeding disorder, platelet-type, 12 (PTGS1)
  • Bleeding disorder, platelet-type, 13, susceptibility to (TBXA2R)
  • Bleeding disorder, platelet-type, 15 (ACTN1)
  • Bleeding disorder, platelet-type, 16, AD (ITGA2B)
  • Bleeding disorder, platelet-type, 17 (GFI1B)
  • Bleeding disorder, platelet-type, 18 (RASGRP)
  • Bleeding disorder, platelet-type, 19 (PRKACG)
  • Bleeding disorder, platelet-type, 20 (SLFN14)
  • Bleeding disorder, platelet-type, 21 (FLI1)
  • Bleeding disorder, platelet-type, 24, AD (ITGB3)
  • Bleeding disorder, platelet-type, 7 [Scott syndrome] (ANO6)
  • Bleeding disorder, platelet-type, 8 (P2RY12)
  • Congenital short bowel syndrome (FLNA)
  • Deafness, AD 1, with/-out thrombocytopenia (DIAPH1)
  • Erythrokeratodermia variabilis et progressiva 4 (KDSR)
  • Gastrointestinal ulceration, recurrent, with dysfunctional platelets (PLA2G4A)
  • Ghosal hematodiaphyseal syndrome (TBXAS1)
  • Giant platelet disorder, isolated (GP1BB)
  • Glanzmann thrombasthenia (ITGA2B, ITGB3)
  • Gray platelet syndrome (NBEAL2)
  • Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
  • Hemophagocytic lymphohistiocytosis, familial, 5, with/-out 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 2 (AP3B1)
  • Hermansky-Pudlak syndrome 7 (DTNBP1)
  • Hermansky-Pudlak syndrome 8, 9 (BLOC1S3, BLOC1S6)
  • Immunodeficiency 71 with inflammatory disease + congenital thrombocytopenia (ARPC1B)
  • Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE)
  • Intestinal pseudoobstruction, neuronal (FLNA)
  • LEOPARD syndrome 1 (PTPN11)
  • Leukocyte adhesion deficiency, type III (FERMT3)
  • Macrothrombocytopenia + granulocyte incl. with/-out nephritis/sensorineural hearing loss (MYH9)
  • Macrothrombocytopenia, AD, TUBB1-related (TUBB1)
  • Noonan syndrome 1 (PTPN11)
  • Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
  • Purinergic receptor P2X, ligand-gated ion channel, 1 deficiency (P2RX1)
  • Quebec platelet disorder (PLAU)
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (HOXA11)
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (MECOM)
  • Sitosterolemia 1 (ABCG8)
  • Sitosterolemia 2 (ABCG5)
  • Stormorken syndrome [YORK platelet syndrome] (STIM1)
  • Takenouchi-Kosaki syndrome (CDC42)
  • Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
  • Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
  • 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, AD, 7 (IKZF5)
  • Thrombocytopenia, XL (WASP)
  • Thrombocytopenia, XL, intermittent (WASP)
  • Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
  • Thrombocytopenia, anemia + myelofibrosis (MPIG6B)
  • Thrombocytopenia, congenital amegakaryocytic (MPL)
  • Thrombocytopenia, neonatal alloimmune (ITGB3)
  • Thrombocytopenia-absent radius syndrome (RBM8A)
  • Thrombophilia due to thrombomodulin defect (THBD)
  • Thrombotic thrombocytopenic purpura, hereditary (ADAMTS13)
  • von Willebrand disease, platelet-type (GP1BA)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu
  • AD und/oder Gen Fusion
  • AD und/oder Mult
  • AD und/oder SMu
  • AR
  • Gen Fusion
  • XLR
  • XLR und/oder SMu
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
D69.4-

Bioinformatik und klinische Interpretation

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