LOINC long common name : Hereditary thrombocytopenia multigene analysis in Blood or Tissue by Molecular genetics
method;
LOINC short name : IT multigene analysis Bld/T;
LOINC description : Multigene analysis for inherited thrombocytopenia (IT), a group of hereditary disorders
characterized by a reduced platelet count, abnormal platelet function, followed by
impaired haemostasis. Over 40 genes have been known to cause different forms of inherited
thrombocytopenia. However, the identification of the underlying causative gene in
a patient is challenging given the high degree of heterogeneity. Testing does provide
insight into the various clinical presentations and prognosis, where some defects
can lead to hematological malignancies.[PMID: 31275945];
Has component