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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
18 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
22,6 kb (Core-/Core-canditate-Gene)
37,0 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
FERMT31992NM_031471.6AR
GP1BA1959NM_000173.7AD, AR
GP1BB621NM_000407.5AD, AR
GP9534NM_000174.5AR
ITGA2B3120NM_000419.5AD, AR
ITGB32367NM_000212.3AD, AR
NBEAL28265NM_015175.3AR
P2RY121029NM_022788.5AR
PLAU1245NM_001145031.3AD
RUNX11443NM_001754.5AD
ACTN12745NM_001130004.2AD
ANO62733NM_001025356.3AR
FLI11359NM_002017.5AD, AR
GFI1B993NM_004188.8AD, AR
GP61863NM_001083899.2AR
RASGRP21830NM_153819.1AR
TBXA2R1032NM_001060.6AD, AR
VPS33B1854NM_018668.5AR

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

Bioinformatik und klinische Interpretation

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