ESHG 2024 – Berlin
Our presentations
NGS EQA Participants Meeting
Marking a Milestone: Reflecting on a decade of providing NGS EQAs
- Monday June 3rd
- 12h15-13h15
- Sequencing Square in Hall 4.2
Presenters: Dr Simon Patton, Prof Sandi Deans, Dr Erika Souche Dr Joo Wook Ahn, Dr Christophe Roos, Dr Dave Cregeen, Dr Weronika Gutowska-Ding
Our posters
Implementation of External Quality Assessment for Inherited Retinal Disorders: Assuring Test Standards to Support the Identification of Patients Eligible for Therapeutic Intervention
Presenting Author: Rachel Taylor
Poster session: P15.060.A
Genetic research and testing for epilepsy in a resource-constrained setting: the South African experience
Presenting Author: Alina Esterhuizen
Poster session: P11.029.A
PV04 EMQN Best Practice Guidelines for Genetic Testing in Hereditary Breast and Ovarian Cancer
Presenting Author: Stacey Hume
Poster session: P15.043.D
Improving the quality of pharmacogenetic testing and reporting: standardising nomenclature through External Quality Assessment (EQA)
Presenting Author: Rebecca Goodall
Poster session: P18.017.D
Determining the impacts of a critical genotyping error identified by External Quality Assessment (EQA); are laboratories considering the implications for patients?
Presenting Author: India Roderick
Poster session: P15.021.B
Our assessor vacancies
Molecular Pathology
- Homologous recombination deficiency (HRD) testing
- ESR1 testing in breast cancer cfDNA (plasma)
- Urothelial cell carcinoma (UCC) (FGFR) [Tissue]
- Fusion testing in solid tumour
Technical
- Pharmacogenetics
- DPYD/UGT1A1 testing
Germline
- Cardiac Arrythmia
- Fragile X (FRAX) – German language skills required
- Friedreich’s ataxia (FRDA) – German language skills required
- Rare Neurological Disorders (RND)
- Severe Combined Immunodeficiencies (SCID)
- Lynch syndrome (hereditary non-polyposis colon cancer, HNPCC)
Other relevant documents
Hypertrophic Cardiomyopathy EQA 2023
Inherited Retinal Disorders (IRD) Pilot EQA 2023
IQN Path/EMQN CIC Validation Study - HRD Testing in Ovarian Cancer
Lung Cancer (NSCLC) [Tissue] - New and Emerging Biomarkers EQA 2023
Pharmacogenetics EQA 2023
Spinal Muscular Atrophy (SMA) EQA 2023
Implementation of circulating tumour DNA multi‑target mutation testing in plasma: a perspective from an external quality assessment providers’ survey
External quality assessment (EQA) for tumor mutational burden: results of an international IQN path feasibility pilot scheme
