99970-6LOINC 2.82
Hereditary thrombocytopenia multigene analysis in Blood or Tissue by Molecular genetics method
IT multigene analysis Bld/T
Definition
- 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]
Component
- Hereditary thrombocytopenia multigene analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- Blood; Document; Finding; Findings; Gene; Gene panel; IT multigene analysis; Molecular genetics; Molecular pathology; MOLPATH; Multi-gene study; Multiple-gene panel test; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- Document
- Finding
- Findings
- Gene
- Gene panel
- IT multigene analysis
- Molecular genetics
- Molecular pathology
- MOLPATH
- Multi-gene study
- Multiple-gene panel test
- PCR
- Point in time
- Random
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue