Platelets have essential roles in primary hemostasis. Patients with either hereditary or acquired platelet disorders usually have bleeding diathesis, which can potentially be life-threatening. A reliable laboratory diagnosis of a platelet disorder can significantly impact patients' and, potentially, their family members' clinical management and outcomes.
Platelet Test menu
Considered the gold standard test for diagnosing dense granule deficiencies in Hermansky-Pudlak syndrome, alpha-delta platelet storage pool deficiency, Paris-Trousseus-Jacobsen syndrome, Wiskott-Aldrich syndrome, TAR (thrombocytopenia, absent radii) syndrome, Chediak-Higashi syndrome and more, PTEM has been an essential tool for laboratory diagnosis of various hereditary platelet disorders since it was first used to visualize fibrin-platelet clot formation in 1955. PTEM employs two main methods to visualize platelet ultrastructure: whole mount (WM) TEM and thin section (TS) TEM.
Exposed collagen at a vascular damage site can activate platelets via collagen receptor GPVI and GPIa and bind shear-stretched multimeric VWF proteins, which subsequently interact with the platelet surface receptor, GPIb-V-IX. Upon full activation, platelets can aggregate by binding to fibrinogen through activated GPIIb-GPIIIa receptors. Deficiency of platelet surface glycoproteins can cause bleeding diathesis.
Platelet flow cytometric analysis is the preferred method to assess hereditary platelet disorders due to quantitative surface glycoprotein (GP) deficiencies. GP expression levels can be measured by using fluorescent-conjugated GP-specific antibodies, and their fluorescent intensities can be compared to normal ranges of various glycoproteins.
Genotype assays for bleeding, thrombosis, and platelet disorders are increasing in utility and availability. Mayo Clinic Laboratories offers a comprehensive next-generation sequencing menu for patients with these disorders. Learn more.
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