Samples Donation
The materials we supply in our EQA schemes underpin our ability to provide a thorough assessment of testing performed by participating laboratories. Having access to specimens with a range of variants guarantees continued EQA provision, thereby assuring quality of genomic testing for patients around the world.
We are currently experiencing a shortage of suitable materials for several of our EQA schemes. We are contacting our membership to ask for your kind support in creating a bank of scheme materials.
Are you able to help our mission?
If you have access to any samples with clinically relevant variants in any of the genes related to the following conditions/schemes please contact us and we will get in touch with you to discuss the details.
- Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS)
- Breast cancer somatic variants (FFPE)
- Cardiac arrhythmias (Cardiac ARR)
- Cardiac hypertrophic cardiomyopathies (Cardiac HCM)
- Charcot-Marie-Tooth disease / Hereditary Neuropathy with liability for Pressure Palsies (CMT/HNPP)
- Congenital Adrenal Hyperplasia (CAH)
- Hereditary Endocrine cancer and MEN2 (AIP, CDKN1B, CDC73, DICER1, MEN1, PRKAR1A, RET, SDHA, SDHB, SDHC, SDHD, VHL)
- Hereditary Renal cancer (BAP-1, CDC73, FH, FLCN, MET, PTEN, SDHA, SDHB, SDHC, SDHD, TSC1, TSC2, VHL)
- Inherited Retinal Disorders (IRDs)
- Fusions (FFPE)
- Mitochondrial DNA metabolic disorders (mtDNA)
- Osteogenesis imperfecta (OI)
- Phenylketonuria (PKU)
- Rare Neurological Disease (RND)
- Retinoblastoma (RB)
- Stickler syndrome (Stickler)
- Systemic Autoinflammatory Diseases (SAID)
- Pan-Tumour Fusions [FFPE]
We are interested in blood samples that can be used to establish new lymphoblastoid cell lines or for direct DNA extraction, already established lymphoblastoid cell lines, FFPE blocks for molecular pathology, or surplus DNA samples (required DNA amounts vary between schemes).
We would also welcome donations of samples for any other EMQN EQA schemes.
Samples used for proficiency testing are fully anonymised and used for quality assurance purposes only. Explicit patient consent is not generally required use of surplus material for proficiency testing; however, contributing laboratories must ensure compliance with local ethical, legal, and institutional requirements.