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ErkrankungMakrothrombozytopenien, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Makrothrombozytopenien mit 9 bzw. zusammen genommen 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
TP4536
Anzahl Gene
20 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
28,6 kb (Core-/Basis-Gene)
47,0 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
ACTN12745AD
DIAPH13819AD und/oder AR
FLI11359AD und/oder AR
GFI1B993AD und/oder AR
GP1BA1959AD und/oder AR
GP1BB621AR
GP9534AR
ITGA2B3120AD und/oder AR
ITGB32367AD und/oder AR
MYH95883AD
PRKACG1056AR
SLFN142743AD
TUBB11356AD
ANO62733AR
GP61863AR
NBEAL28265AR
PLAU1245AD
RASGRP21830AR
RUNX11443AD und/oder Gen Fusion
TBXA2R1032AD

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: FG syndrome 2 (FLNA)
  • Allelic: Frontometaphyseal dysplasia 1 (FLNA)
  • 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)
  • 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)
  • Sialuria (GNE)
  • Takenouchi-Kosaki [macrothrombocytopenia + MR] syndrome (CDC42)
  • Thrombocytopenia 6 (SRC)
  • Thrombocytopenia with beta-thalassemia, XL (GATA1)
  • Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
  • Thrombocytopenia, neonatal alloimmune (ITGB3)
  • Thrombocytopenia, neonatal alloimmune, BAK antigen related (ITGA2B)
  • 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
D69.4-

Bioinformatik und klinische Interpretation

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