99970-6Hereditary thrombocytopenia multigene analysis in Blood or Tissue by Molecular genetics methodActive
Term 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]
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Hereditary thrombocytopenia multigene analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- IT multigene analysis Bld/T
- Display Name
- Hereditary thrombocytopenia multigene analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha
- Hereditary thrombocytopenia multigene analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.72
- Last Updated
- Version 2.72
- Order vs. Observation
- Both
LOINC FHIR® API Example - CodeSystem Request Get Info
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=99970-6
LOINC Copyright
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