Participant Manual

Introduction

The UK NEQAS for Molecular Genetics is committed to offering practical quality assessment for the molecular analysis of inherited diseases and acquired disorders. Where available, the standards expected of participants follow the UK Molecular Genetics Best Practice Guidelines currently posted on the Association of Clinical Genetic Science (www.acgs.uk.com) and EMQN (www.emqn.org) websites.

The Scheme has evolved to assess both the genotyping and the interpretation aspects of laboratory reports as well as clerical accuracy. Laboratories are asked to treat the samples as routine and to report the results in their normal format.

Practical exercises may also be augmented by theoretical problems as deemed appropriate by the Steering Committee and/or Specialist Advisory Groups.

The Scheme currently aims to provide quality assessment for core molecular diseases routinely tested by regional genetic laboratories, molecular pathology testing, molecular testing for newborn screening, preimplantation genetic diagnosis, next generation sequencing, non-invasive prenatal diagnosis and other new pilot EQAs.

The conditions of participation followed are those set by the Joint Working Group on Quality Assurance (see Joint_Working_Group_Conditions_of_ParticipationJuly08.pdf). By registering for an EQA scheme you are agreeing to abide by these conditions of participation.

Participation in the UK NEQAS for Molecular Genetics EQAs requires laboratories to use a website account. This is password protected and provides a complete record of participation and performance. The document, UKNEQAS-S-005 Molecular Genetics Website Guide 2017.pdf, describes how to use the account.

The Scheme plans all processes involved in delivering the EQAs and does not subcontract the planning.