Product Code: CARDIAC(HCM)-25
From £445.00
Registration closed: 30/11/2024
Applicable to labs that undertake NGS-based testing for this group of disorders (including targeted panel testing/ virtual panel /clinical exome / WES / WGS)
Gene panel testing of genes associated with non-syndromic and syndromic forms of hypertrophic cardiomyopathy. The scope of this EQA is broadly in line with the genes designated high evidence (green) on the Genomics England Hypertrophic Cardiomyopathy Panel App.
Any molecular test, CNV, MLPA, NGS, Panel testing, PCR based, Sanger sequencing
English
DNA (in TE Buffer)
Yes
The scheme is designed to assess the entire diagnostic pipeline of a laboratory, including sample receipt and processing, analytical processing (genotyping), and reporting (biological and clinical interpretation of the test result) in the context of a clinical referral, as well as reporting clarity, content and clerical accuracy.
Three mock clinical cases with matching samples.
Approximately 2µg DNA per sample is provided. Complete information will be available in scheme instructions.
Participants will receive an individual report including educational advice and a scheme report which includes additional information from the cohort of participants including geographical spread, methodologies employed, common errors, learning points and scheme statistics allowing participants to benchmark their results.
Each laboratory will also receive a single certificate listing all EQAs participated in with performance result for each year.
No restrictions on number of participants. Open to laboratories from ALL countries (note: some restrictions may apply*)
*Sanctions, delivery network exceptions, restrictions on importation etc.
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