Sample donation
The materials we supply in our EQA schemes underpin our ability to assess the testing performed by participating laboratories. Access to specimens with a range of variants is what keeps those schemes running, and with them the quality of genomic testing for patients around the world.
Are you able to help?
If you have access to samples with clinically relevant variants in any of the genes related to the conditions and schemes below, get in touch and we will discuss the details with you.
Conditions and schemes we need
- 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 would also welcome donations of samples for any other EMQN EQA scheme.
Materials we can use
- Blood samples for establishing new lymphoblastoid cell lines
- Blood samples for direct DNA extraction
- Already established lymphoblastoid cell lines
- FFPE blocks for molecular pathology
- Surplus DNA samples, with amounts varying between schemes
Consent and ethics
Samples used for proficiency testing are fully anonymised and used for quality assurance purposes only. Explicit patient consent is not generally required for the use of surplus material in proficiency testing. Contributing laboratories must ensure compliance with local ethical, legal and institutional requirements.
Getting samples to us
EMQN can arrange courier collection and shipment of samples for use in EQA schemes, providing logistical support and covering the associated shipping costs.