List of diseases covered by
Thrombocytopenia NGS panel
Gene | Condition |
ADAMTS13 | Thrombotic thrombocytopenic purpura, familial |
ANKRD26 | Thrombocytopenia 2 |
CYCS | Thrombocytopenia 4 |
GATA1 | Thrombocytopenia with beta-thalassemia, X-linked; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities |
GP1BA | von Willebrand disease, platelet-type; Bernard-Soulier syndrome, type A1 (recessive); Bernard-Soulier syndrome, type A2 (dominant); Nonarteritic anterior ischemic optic neuropathy, susceptibility to |
GP1BB | Bernard-Soulier syndrome, type B |
GP9 | Bernard-Soulier syndrome, type C |
ITGA2B | Glanzmann thrombasthenia; Bleeding disorder, platelet-type, 16, autosomal dominant |
ITGB3 | Bleeding disorder, platelet-type, 16, autosomal dominant; Glanzmann thrombasthenia; Myocardial infarction, susceptibility to |
MPL | Thrombocythemia 2; Thrombocytopenia, congenital amegakaryocytic |
MYH9 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
RUNX1 | Platelet disorder, familial, with associated myeloid malignancy; Leukemia, acute myeloid |
WAS | Thrombocytopenia, X-linked; Neutropenia, severe congenital, X-linked; Wiskott-Aldrich syndrome |