Background
Info
This guide replaces the content found in SOP-EXT-004 Sample Matching Service - Specification for Positive Sample Identification
If you spot anything missing please contact Genomics England Service Desk
This site provides guidance to GLH Clinical Scientists on submitting local SNP files to the Sample Matching Service for rare disease referrals in the GMS.
It covers:
- An introduction to the SMS & how it relates to the rare disease referral workflow
- How GLH users can use and override the SMS
- How the SNP comparison is carried out
Getting started¶
What is SMS? How do I use SMS? Postman Example FAQs
Additional Resources¶
Whole Genome Sequence (WGS) Specialist Interpretation Tagging
Transcribing Whole Genome Sequence Test Requests into NGIS User Guide
CSV Submission and Validation Guide for WGS in NGIS User Guide
Genomics England Interpretation Portal for the NHS Genomic Medicine Service
Genomic Laboratory Hubs (GLH) Congenica User Guide Clinical Genomic Interpretation
Sample Failure Guidance
Environment Access Guide
GUI-EXT-010 DQ Report Guidance
Cancelling or Updating a Test Request or Patient Record in NGIS SOP