LOINC
Version 2.72

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