EQA scheme catalogue & participant guide 2018 - EMQN

1 EQA scheme catalogue & participant guide 2018 . EQA schemes are provided by Central Manchester University Hospitals NHS Foundation Trust operating EMQN. EMQN is accredited to ISO 17043. 4367. Table of contents Porphyrias 34. Prader-Willi and Angelman Syndromes 35. Retinoblastoma 36. Introduction from EMQN Director 03. Spinal Muscular Atrophy 37. New this year 03 Spinocerebellar Ataxia' 38. EMQN Membership 04 Von Hippel Lindau Syndrome 39. Wilson Disease 40. EQA schemes 06. Y-Chromosome Microdeletions 41. Germline mutation testing EQA schemes 07 Somatic mutation testing EQA schemes 42. Arrhythmias 08 Molecular testing for EGFR gene Autosomal Dominant Polycystic mutations in ctDNA (pilot) 43.

2 Kidney disease 09 Molecular testing for RAS gene Beckwith-Wiedemann & mutations in ctDNA (pilot) 44. Silver-Russell syndromes 10 Molecular testing in Lung Cancer 45. Breast / Ovarian Cancer, familial Molecular testing in Melanoma 46. (Full version) 11 Molecular testing in sporadic Breast / Ovarian Cancer, familial Colorectal Cancer 47. (Genotyping-only version) 12 Molecular testing of BRCA genes Charcot-Marie-Tooth disease 13 in Ovarian Cancer (vGermline) 48. Congenital Adrenal Hyperplasia 14 Molecular testing of BRCA genes Duchenne / Becker Muscular Dystrophy 15 in Ovarian Cancer (vSomatic) 49. Familial Adenomatous Polyposis Oncogene panel testing 50. Colon Cancer 16.

3 Technique-specific EQA schemes 51. Familial autosomal dominant Constitutional Microarray analysis hypercholesterolemia 17. (Microarrays / arrayCGH) 52. Familial SHOX-related disorders 18. DNA Sequencing NextGen (vGermline) 53. Fragile X Syndrome (Full version) 19. DNA Sequencing NextGen (vSomatic) 54. Fragile X Syndrome (Pre-screening DNA Sequencing Sanger (Data quality only version) 20. assessment only version) 55. Friedreich Ataxia 21. DNA Sequencing Sanger (Full version) 56. Hereditary Deafness 22. Non-invasive prenatal testing (NIPT) Hereditary Haemochromatosis 23. for common aneuploidies (pilot) 57. Hereditary Recurrent Fevers 24. Non-invasive prenatal testing (NIPT) Huntington Disease 25.

4 For fetal sexing (pilot) 58. Hypertrophic Cardiomyopathies 26. Lynch Syndrome 27 How to participate 59. Mitochondrial DNA (mtDNA) Participation Fees 60. Metabolic Disorders 28. Invoices 61. Monogenic Diabetes 29. Multiple Endocrine Neoplasia Type 2 30 EQA scheme timetable 62. Myotonic Dystrophy 31 Accreditation of EMQN 64. Osteogenesis imperfecta 32. Terms and Conditions 65. Phenylketonuria 33. EQA participant user guide 68. 2 / 72 Version 1. Published 01-08-2017. TEL: +44 161 276 6741. FAX: +44 161 276 6606. WEB: EMAIL: Copyright EMQN. No part of this document may be copied, distributed or published in any form without the written permission of the EMQN. Introduction from EMQN Director New this year Welcome to our 2018 EQA scheme catalogue The clinical diagnostic testing landscape and participant guide .

5 This is our 21st year of is changing rapidly with the widespread operation and we've come a long way in that time. introduction of panel testing and Our days of EU grant funded start-up finished in clinically-focussed genomic methods. 2002 and since then we have been entirely funded Therefore in 2018 we will be moving to offering by subscription fees paid by you, our customers. EQA schemes which meet the needs of laboratories We've grown from 1 EQA scheme and 25 participants which are offering virtual panel analysis (via clinical (1997), to 50 different EQAs and 1400 regular exomes, whole exomes, or genomes), as well as users in 2017. Our customer base has evolved targeted tests.

6 Consequently this year we are offering too over this time and we are now a truly global two new pilot EQA schemes for cardiac genetics. provider of EQA activities with customers in 68 different countries using our services. We are hosted by Central Manchester University The schemes are for: Hospitals NHS Foundation Trust (CMFT) and based within one of the largest Genomic Diagnostic - Arrthymias (page 7) NEW. Laboratories in the UK (the Manchester Centre for Genomic Medicine). This gives us a valuable interface - Hypertrophic Cardiomyopathies with current and developing clinical practice across (page 26) NEW. the full spectrum of clinical genomic services. Our activities are supported by a global team of 180 experts in the fields of Genetics, Pathology and Bioinformatics.

7 Our experts spend countless hours monitoring testing trends in these fields to bring you EQA schemes that: -C. hallenge and educate our users -K. eep our offerings contemporary with new programmes to meet new developments in diagnostic practice. I'd like to thank you for your continued custom and we look forward to working with you in 2018 . Best wishes, Dr Simon Patton (EMQN Director) 3 / 72 Version 1. Published 01-08-2017. TEL: +44 161 276 6741. FAX: +44 161 276 6606. WEB: EMAIL: Copyright EMQN. No part of this document may be copied, distributed or published in any form without the written permission of the EMQN. EMQN Membership EMQN membership makes you a partner in the largest External Quality Assessment (EQA, sometimes called Proficiency Testing) network for molecular testing in the world.

8 Membership offers important benefits for a modest outlay and is open to public and private testing laboratories, commercial manufacturers of relevant instruments, kits and reagents, and to pharmaceutical, veterinary and other laboratories. Gain Recognition For Drive Your Quality Improvement Your Laboratory and Innovation The independent assessment of your laboratory's Participation in EMQN's schemes helps to drive performance brings a focus to your quality your laboratory quality higher and contributes management programme and helps you to gain to your quality improvement model. The international recognition for your results. results of scheme participation contribute towards best practice guideline development National accrediting bodies, such as UKAS.

9 And enables the diffusion of innovation. Our in the UK, are members of the International members' combined contributions ultimately Laboratory Accreditation Cooperation (ILAC). benefit each individual member laboratory. Membership of EMQN enables you to satisfy the EQA participation requirements of these bodies. EMQN has adopted a continuous improvement model for its EQA process. Each laboratory receives The EMQN includes over 2000 member labs feedback on their performance on each scheme . worldwide (including over 80% of the genetic schemes and participants are assessed with testing laboratories in Europe). Membership reference to best practice on individual diseases of these high performing laboratories extends and the feedback provided includes guidance beyond Europe with members in Australia, Asia for laboratory management in genetics.

10 A report and the Americas. These laboratories have chosen is provided from the scheme as a whole, as is a EMQN as their EQA provider. By choosing EMQN. summary report on the EQA schemes in a given you join this elite group. By participating in our year. Based on an independent assessment of results EQA schemes you set high standards and will these reports provide a variety of levels of feedback gain recognition and respect for a commitment to support the overall improvement model. to the highest standards of patient care. EMQN organises best practice meetings. Members can contribute to best practice development through these meetings which sthe testing community as a whole.