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Genetics tests: Bleeding and platelet disorders

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Test name
Afibrinogenemia, congenital
Alpha-2-plasmin inhibitor deficiency
Bernard-Soulier syndrome
Bleeding and Platelet Gene Panel
Bleeding disorder of unknown cause
Chediak-Higashi syndrome
Dysfibrinogenemia, congenital
Ehlers-Danlos syndrome (associated with bleeding)
Factor II deficiency (full gene analysis)
Factor II Prothrombin – G20210A Variant
Factor V and factor VIII, combined deficiency of
Factor V deficiency (full gene analysis)
Factor V Leiden – G1691A Variant
Factor VII deficiency
Factor X deficiency
Factor XI deficiency
Factor XII deficiency
Factor XIII deficiency
Fletcher factor (prekallikrein) deficiency
Gaucher disease
Ghosal hematodiaphyseal syndrome
Giant platelet disorder
Glanzmann thrombasthenia
Gray platelet syndrome
Haemophilia A (Severe) – Factor VIII (F8) common 1/22 intron inversion
Haemophilia A CVS Variant Analysis (Known Genotype) – F8 Intron 22 Inversion, F8 Intron 1 Inversion, Sequence analysis of known variants for F8 gene
Haemophilia A (Factor VIII deficiency)
Haemophilia B CVS Variant Analysis (Known Genotype) – Sequence analysis of known variants for F9
Haemophilia B (Factor IX deficiency)
Hemophagocytic lymphohistiocytosis, familial
Hermansky-Pudlak syndrome
Hypodysfibrinogenemia, congenital
Leukocyte integrin adhesion deficiency
Macrothrombocytopenia
Platelet-type bleeding disorder
Quebec platelet disorder
Scott syndrome
Sitosterolemia and thrombocytopenia
Stormorken syndrome
Takenouchi-Kosaki syndrome
Thrombocytopenia
von Willebrand disease
Wiskott-Aldrich syndrome