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  1. FHIR Specification Feedback
  2. FHIR-19829

Inclusion of Sanger confirmation information

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    Details

    • Type: Change Request
    • Status: Triaged (View Workflow)
    • Priority: Medium
    • Resolution: Considered for Future Use
    • Specification:
      Genomics Reporting (FHIR)
    • Raised in Version:
      STU3
    • Work Group:
      Clinical Genomics
    • Related Page(s):
      (profiles)
    • Resolution Description:
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      under current guidance, labs could either explicitly add confirmation method to the (extensible) Observation.method, or issue a separate variant observation with the confirmation method if they want to track the provenance separately.

      Work group to consider quality reporting standards in the future

      Show
      under current guidance, labs could either explicitly add confirmation method to the (extensible) Observation.method, or issue a separate variant observation with the confirmation method if they want to track the provenance separately. Work group to consider quality reporting standards in the future

      Description

      For our clinical genetic tests, we validate SNVs using Sanger and CNVs using MLPA. Would the Described or Complex Variant be the appropriate resource to include validation info? If so, what would be an appropriate field to house this info?

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            Assignee:
            Unassigned Unassigned
            Reporter:
            mullai murugan Mullai Murugan
            Watchers:
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              Dates

              Created:
              Updated:
              Resolved: