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Product Brief - Clinical Genomics V2 IG Genetic Variation

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Product Name

HL7 Version 2 Implementation Guide: Clincial Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 1 (US Realm)


Genetic Variation Genotype Topic

Standard Category

Implementation Guide

Integration Paradigm





Clinical Genomics Genotype; HL7 IG LOINCGENVA, R1-2009


Supports the transmission of clinical genetic test results using a 2.5.1 lab message (from the lab to the medical record)


Structured clinical genetic test results are key for clinical decision support, augmentation of patient data in clinical data warehouses, research studies, clinical trials, etc… this uses models for stablished standards for transmission of laboratory test results for transmission of genetic test results.

Business Case (Intended Use, Customers)

Medical Record, Testing Laboratories, and Clinical Research


  • Main benefit is to users already using v2, to have an implementation guide for a known specification in lab messaging, for genetic variation testing results, not just any area on genomics - specific to genetic variation.

Implementations/ Case Studies (Actual Users)


Work Groups


Certification Available
  • none


  • ambassador presentation (Grant Wood)

Relationship to/ Dependencies on, other standards

  • HL7 V2.5.1 Laboratory Result Implementation Guide, SNOMED, RxNORM, and LOINC

Links to current projects in development