Please note that this website is no longer being maintained. For all current information and registration please refer to GenQA.


Frequently Asked Questions

What is the aim of the Scheme?

UK NEQAS for Molecular Genetics provides laboratories with a mechanism by which to measure and monitor the standard of their service. The external quality assessments are predominantly educational. However mechanisms are in place to monitor and act on issues of poor performance.

To whom is it aimed?

Public and private laboratories performing molecular genetic analysis for human inherited conditions and acquired diseases. Participation in some EQAs are limited to certain countries, however the molecular pathology, molecular testing on blood spots, preimplantation genetic diagnosis and molecular rapid aneuploidy testing schemes are open to all interested laboratories. Some other schemes, and many of the pilot EQAs are open to laboratories in all countries so please contact the Scheme if you require further details.

How many samples are distributed?

Currently under normal circumstances there is one distribution of samples per year for each core molecular genetics disease. We offer quality assessment for a range of diseases and sample distribution is staggered. For each disease sufficient samples are distributed to answer three clinical scenarios. When poor performance is identified additional rounds of samples may be distributed as deemed necessary by the Specialist Advisory Group.

The molecular testing on blood spots EQA schemes include four distributions per year with 3 samples dispatched per distribution.

The majority of the molecular pathology EQA scheme include two distributions per year, each comprising of 4-5 samples.

There is one EQA for molecular preimplantation genetic diagnosis per year which involves a two stage process.

There is one EQA for sarcoma testing by FISH and/or RT-PCR.

There is one EQA for  Array/NGS preimplantation genetic diagnosis (polar body, blastomere and/or trophectoderm) for translocations and aneuploidies.

PILOTS - There is one distribution per each of the following pilot EQAs during 2017 - Next Generation Sequencing (Germline and Somatic) and Non-invasive prenatal testing of aneuploidies.

How much does it cost?

The Scheme is a not for profit, self funding organisation and strives to keep partcipation fees to a minimium. There is an annual registration fee which is fixed regardless of how many schemes you participate in (see Registration Fees). There is a fee charged for each EQA scheme participation. Details for the current year are available here. Pilot EQAs are provided at reduced costs - please enquire by email to

What do you assess?

The EQAs aim to not only assess the accuracy of genotyping but in addition the overall quality of the reports issued. Each report is given a numerical score both for the accuracy of the genotyping and the relevance of the interpretation of the results in the context of the clinical case scenario provided. Errors in clerical accuracy are noted. For genotyping only and interpretation only EQAs then only those categories will be assessed.

Who will assess the reports?

All reports are marked by at least two senior members of the profession with experience of the disease/test in question. Marking criteria is set by the appropriate Specialist Advisory Group for each case and is peer reviewed. Any discrepancies in marking are resolved by the overarching Steering Commitee or appropriate Specialist Advisory Group.

How do you define poor performance?

Poor performance criteria is set by the Steering Committee, apprporiate Specialist Advisory Group and Scheme Director and is approved by the United Kingdom National Quality Assessment Advisory Panel (NQAAP) for Genetics. See the Poor Performance Criteria.

Is my confidentiality guaranteed?

Yes. The anonymity of each participating laboratory will be maintained at all times unless deemed a persistent poor performer. The laboratory identity will only then be disclosed to the appropriate NQAAP for Genetics panel. For further information on NQAAP for Genetics click here.

How do I use the laboratory website account?

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.