Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias.

European journal of human genetics : EJHG - 1 Aug 2008

Seneca Sara, Morris Michael A, Patton Simon, Elles Rob, Sequeiros Jorge

Abstract excerpt

The European Molecular Genetics Quality Network (EMQN) has been organizing an external quality assessment (EQA) scheme for molecular genetic testing of trinucleotide repeat mutations in the spinocerebellar ataxias (SCAs) since 2004. DNA samples were validated by at least two independent labs and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Europe
Share to Genetic Testing
Share to Laboratories

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Diagnostic Techniques

Share to Quality Assurance, Health Care

Share to Quality Control

Share to Spinocerebellar Ataxias

Share to Trinucleotide Repeats

Source

Identifiers

PMID: 18301445
DOI: 10.1038/ejhg.2008.29

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18301445-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias.PMID 18301445Read ↗

Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias.Semantic proximity Read ↗

Thirteen Years of an International External Quality Assessment Scheme for Genotyping: Results and Recommendations.Semantic proximity Read ↗

An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.Semantic proximity Read ↗

The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year survey.Semantic proximity Read ↗

Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations.Semantic proximity Read ↗

External quality assessment for mutation detection in the BRCA1 and BRCA2 genes: EMQN's experience of 3 years.Semantic proximity Read ↗

The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity.Semantic proximity Read ↗

HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme.Semantic proximity Read ↗

The UK National External Quality Assessment Scheme for heritable bleeding disorders.Semantic proximity Read ↗

Benchmark for evaluating the quality of DNA sequencing: proposal from an international external quality assessment scheme.Semantic proximity Read ↗

European external quality control study on the competence of laboratories to recognize rare sequence variants resulting in unusual genotyping results.Semantic proximity Read ↗

The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.