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