99970-6

LOINC code 99970-6 identifies "Hereditary thrombocytopenia multigene analysis in Blood or Tissue by Molecular genetics method". 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]

This code measures Hereditary thrombocytopenia multigene analysis in Bld/Tiss. It belongs to the MOLPATH class in the LOINC classification.

LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.