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Product | Type of test | Genes |
---|---|---|
Severe Congenital Neutropenia | Gene NGS | ELA2 |
Severe congenital neutropenia panel | NGS Panel | ELANE, GFI1, HAX1, WAS |
Severe congenital neutropenia type 1 | Gene NGS | ELANE |
Severe congenital neutropenia type 2 | Gene NGS | GFI1 |
Shwachman-Diamond syndrome | Gene NGS | SBDS |
Síndrome de Bernard-Soulier tipo A1 / A2 | Gene NGS | GP1BA |
Síndrome de Bernard-Soulier tipo B | Gene NGS | GP1BB |
Síndrome de Bernard-Soulier tipo C | Gene NGS | GP9 |
Sindrome mielodisplásico genético | Gene NGS | SF3B1 |
Síndrome Mielodisplásico somático | Gene NGS | TET2 |
Sinostosis radioulnar con trombocitopenia... | Gene NGS | HOXA11 |
Thalassemia alpha - intellectual deficit... | Gene NGS | HBA1, HBA2 |
Thrombotic thrombocytopenic purpura,... | Gene NGS | ADAMTS13 |
Trastornos relacionados con GATA2 | Gene NGS | GATA2 |
Trombocitopenia asociada a ausencia de radio | Gene NGS | RBM8A |
Von willebrand disease, type 1 | Gene NGS | VWF |