Table of contents

Introduction 

• Why have European Quality Assessment schemes? 
• The Network
• How do I join the network? 
• External Quality Assessment schemes 

Overview 

• How are new EQA schemes introduced? 
• How do I participate? 
• Is participation confidential? 
• How are samples validated?
• What samples and questions are supplied? 
• What tests should I perform when I receive the samples? 
• How do I report my results? 
• What languages are used?
• How are EQA schemes marked? 
• The final report from the scheme organiser to participating laboratories.
• The educational role of the EMQN
• Can I appeal?
• Final EQA scores

General Points

• How do I communicate with the EMQN?
• Am I eligible to participate?
• What can I offer the EMQN?
• Does the EMQN welcome feedback?
• Does the EMQN have a complaints procedure?

Why have European Quality Assessment Schemes?

In some European countries only a few centres provide molecular genetic tests. National quality assurance schemes are therefore not possible and these countries must look to European Quality Assessment schemes. The same is true for laboratories offering testing for very rare genetic conditions even within a large country with relatively advanced molecular genetic services.


A scheme for external quality assessment (EQA) is essential for any laboratory seeking to maintain and provide a quality service. The European Molecular Genetics Quality Network (EMQN) was established in 1997 to provide EQA schemes and in 1999 received funding for 3 years from the European Commission under the Framework IV Standards Measurement and Testing Programme (Contract Number SMT4-CT98-7515). This funding ceased at the end of March 2002, since when the network has been funded by subscription fees paid by its users. EMQN also promotes internal quality procedures by hosting meetings to discuss best practice in disease and non-disease specific areas.


The EMQN is an independent organisation although we work closely with other schemes offering quality assessment for molecular genetics. For example, the UK National External Quaility Assessment Scheme  (UKNEQAS) for Molecular Genetics, the European Concerted Action for Cystic Fibrosis (ECACF)  and the European Academy for Andrology (EAA) . We also have links with, the European Collection of Cell Cultures (ECACC)  and the Coriell Cell Repositories .

The Network

The network consists of four levels of participant:
1. A management group,
2. National partners,
3. EQA scheme providers and,
4. Registered members.

The management group is responsible for the development of the network, commissioning new schemes and best practice meetings, appointing new scheme organisers, advising scheme organisers of the scientific content, and/or providing EQA materials and administration. The management group is ultimately responsible for the overall organisation and running of the network and comprises seven senior molecular geneticists from EU countries plus a half time executive scientific administrator.


National partners are individuals and their host institutions nominated by a National Genetics Organisation. They act as a dissemination centre for information about EMQN and a focus for EQA and best practice activities in that country. Currently, EMQN has a national partner in each of the European Union countries, and thirteen national partners from non-EU countries.

How do I join the Network?

To become a member of EMQN you must register with the network through the EMQN website (www.emqn.org). A small annual registration fee is charged (50 euro = 34.50 GBP). The registration period runs from the 1st January to 31st December each year. Registered members receive a username and password, which they can use to login to the EMQN website and access the services. EMQN must be notified in writing if you no longer wish to remain a member.

Scheme Overview

The EMQN is committed to offering practical quality assessment schemes, primarily for the molecular analysis of inherited diseases. The aim of EMQN EQA schemes is primarily educational and an opportunity for participating laboratories to critically review their performance. Where possible, the standards expected of participants follow the EMQN  and the United Kingdom Clinical Molecular Genetics Society (CMGS) best practice guidelines. Schemes test the ability of the lab to provide accurate genotyping, to interpret the results, and also assess clerical accuracy. Appendix C shows the EQA schemes offered by the EMQN since 1997.

How are new EQA schemes Introduced?

New EQA schemes are introduced over a three-year cycle as pilot, intermediate and full schemes. First year schemes are offered as pilot schemes with the number of participants normally limited to one per country. Second year intermediate schemes are limited to approximately thirty centres and third year full schemes are open to all, although scheme organisers may sometimes limit the number of participants.

How do I participate?

To participate, you must be a registered member of EMQN (see section 1.3). A charge of 220€  (152GBP) per scheme is made, except for pilot schemes, which are free. All registrations must be done through the EMQN website using the username and password supplied when registering with the network. EQA registration is available from March through to July – all members are notified of the schemes through a newsletter and email.

Note: Participating laboratories will be allocated a unique laboratory reference number - this number will be the same for all subsequent rounds of EQA. The number must be quoted in all correspondence with the scheme organiser.

Is participation confidential?

The fact of participation is not confidential. However, the raw data and performance scores are confidential between the individual laboratory and the scheme organiser (and in exceptional circumstances the EMQN coordinator and Management Group).

How are samples validated?

EQA samples are validated by the scheme organiser and at least one other expert centre. Genotypes are generally checked by more than one analytical method.

What samples and questions are supplied?

Samples are sent out in September, participants will be notified of the exact date by the administrator. The deadline for return of reports to the scheme organiser is usually 6 weeks from receipt of samples (see EQA scheme documentation for more information).

EQA schemes take the form of a practical or theoretical exercises, usually with three clinical questions. For practical EQA exercises sufficient DNA is supplied to perform all necessary analyses. The DNA provided is stable at +4C however long-term storage at –20C is recommended. Repeat DNA samples are usually available from the scheme organiser on request. DNA for the scheme is obtained from either lymphoblastoid cell lines, normal volunteers or patients through special arrangements with collaborating physicians, or participating laboratories. In all cases, informed consent has been given for the use of the sample in EQA.

The materials distributed are provided as specimens for the sole purpose of enabling external quality assessment at the recipient’s laboratory - they are not controls for patient tests and must NOT be used as such.

What tests should I perform when I receive the samples?

Laboratories should perform their normal range of tests on the samples.

How do I report my results?

Laboratories are asked to provide a report to the scheme organiser in their normal laboratory style. All returns should be anonymous and identified only by their individual laboratory reference number.

What languages are used?

Where possible, EQA schemes will be offered in two or more languages, English and the scheme organiser’s national language. Laboratories are expected to report back to the scheme organiser in one of the two languages offered.

How are EQA schemes marked?

Reports are marked by the scheme organiser and two expert assessors from different EU countries - at least one has experience of EQA schemes. The marking criteria for the scheme are decided before receiving the returns. All marking is checked and differences resolved at a meeting between the scheme organiser and assessors.

Marking is divided into two categories, genotyping and interpretation. Marks out of 2.00 are allocated according to the criteria agreed by the scheme organiser and assessors. No score is awarded for clerical accuracy although the assessors will identify key points that they feel should be mentioned in the report. Assessors take note of best practice guidelines. Participants are therefore advised to check available guidelines before beginning their EQA tests . Errors of English language are not considered in the marking of interpretation. 

The final scheme report

Performance scores of participating laboratories, with comments, are distributed with a general overview of the scheme. The report consists of:

• A general overview of the scheme
• Performance scores of participating laboratories - identified only by their laboratory number
• Individual comments to the laboratory on their interpretation and clerical accuracy.

This final report allows the scheme participants to review their own performance in the light of their results and make changes to their practices if they consider it necessary.

The educational role of EQA

The purpose of external quality assessment is to help laboratories to deliver a service of the highest possible quality. EMQN cannot compel a laboratory to participate, nor can we penalise for poor performance in EQA. EMQN plays an educational role and hopes that participating laboratories will critically review their performance after EQA results are returned. EMQN can also provide help and advice if requested.

Can I appeal?

Participants who do not agree with the marks they have received are given a period of time to submit a written appeal to the scheme organiser. The appeal is discussed between the scheme organiser and expert assessors who will make a decision. In cases where the scheme organiser and assessors cannot come to a conclusion, the appeal is forwarded to the EMQN management group for a decision.

Final EQA scores

A complete set of performance scores for all participating centres is distributed upon completion of the appeals procedure. Only their unique reference number identifies participants. The final scores will be posted on the EMQN website at the close of the scheme.

How do I communicate with EMQN?

Confidential communications about a scheme should be made to the scheme organiser. More general points should be made through the EMQN administrator.

Am I eligible to participate?

The EMQN run EQA schemes are open to all laboratories, public and private sector. The number of participants may be restricted by the scheme organiser and preference given to laboratories from within the European Union.

What can I offer the EMQN?

The EMQN is always looking for volunteers to become expert assessors. Anyone interested in taking a more active role in EQA schemes are encouraged to contact the EMQN administrator for more details. 

Does the EMQN welcome feedback?

Comments about EMQN schemes are welcome at any time and should be made in writing to the EMQN administrator. In addition, an open annual participants meeting is held at the European Society for Human Genetics spring meeting and a customer satisfaction form is sent out with each final scheme report.

Does the EMQN have a complaints procedure?

Most complaints received by the EMQN consist of minor misunderstandings or problems with specimens that can usually be resolved over the telephone with the relevant scheme organiser, or the EMQN co-ordinator.

Participants who feel that their cause for complaint requires a more formal response should contact the EMQN co-ordinator in writing. A telephone call may help decide any action required. If a complaint is received it will be logged along with the action taken. The EMQN co-ordinator will attempt to address the complaint as soon as possible by letter. If the participant is not satisfied with the response by the EMQN co-ordinator then the matter will be brought to the EMQN management group at their next meeting. A response will be made in light of the advice from the management group.