Diagnosis of severe congenital P2Y12 defects
| Clinical hallmarks |
| Lifelong history of mucocutaneous bleedings; excessive postsurgical or posttraumatic blood loss |
| Laboratory hallmarks |
| Screening test: inability of high concentrations of ADP (≥ 10μM) to induce full and reversible platelet aggregation (light transmission aggregometry) |
| Confirmatory test: inability of ADP to inhibit PGE1-stimulated adenylyl cyclase (measurement of platelet cyclic AMP or phosphorylation of vasodilator-stimulated phosphoprotein) |
| Clinical hallmarks |
| Lifelong history of mucocutaneous bleedings; excessive postsurgical or posttraumatic blood loss |
| Laboratory hallmarks |
| Screening test: inability of high concentrations of ADP (≥ 10μM) to induce full and reversible platelet aggregation (light transmission aggregometry) |
| Confirmatory test: inability of ADP to inhibit PGE1-stimulated adenylyl cyclase (measurement of platelet cyclic AMP or phosphorylation of vasodilator-stimulated phosphoprotein) |