GuidelineEuropean journal of human genetics : EJHG2013
EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.
Guideline in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Guideline
- What do European clinical guidelines say about genetic testing for people with neuropsychiatric disorders? A scoping review.Psychiatric genetics · 2026Article
- Living with Risk, Aging with Uncertainty: A Narrative Review of Health and Genetic Vulnerability in Huntington's Disease.Biomedicines · 2025Review
- BA9 Transcriptomics in Huntington's Disease 80-Gene Signature and MIR219A2-Linked Targets.International journal of molecular sciences · 2025Article
- Navigating triplet repeats sequencing: concepts, methodological challenges and perspective for Huntington's disease.Nucleic acids research · 2025Review
- The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.Brain communications · 2025Article
- Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation.European journal of human genetics : EJHG · 2024Article
- Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome.Scientific reports · 2024Article
- The First Case of Huntington's Disease like 2 in Mali, West Africa.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Article
- Gene therapy for selected neuromuscular and trinucleotide repeat disorders - An insight to subsume South Asia for multicenter clinical trials.IBRO neuroscience reports · 2023Article
- Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing.Frontiers in neurology · 2022Review
- Cognitive Dysfunction in Repeat Expansion Diseases: A Review.Frontiers in aging neuroscience · 2022Review
- Review
- A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (International journal of molecular sciences · 2021Article
- Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre.BMC medical genetics · 2020Article
- Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations.European journal of human genetics : EJHG · 2020Article
- Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers.Molecular genetics & genomic medicine · 2020Article
- A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes.EBioMedicine · 2019Article
- Exploring neurologists' perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines.BMC medical ethics · 2018Article
- Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.Human mutation · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Huntington disease (HD) is caused by the expansion of an unstable polymorphic trinucleotide (CAG)n repeat in exon 1 of the HTT gene, which translates into an extended polyglutamine tract in the protein. Laboratory diagnosis of HD involves estimation of the number of CAG repeats. Molecular genetic testing for HD is offered in a wide range of laboratories both within and outside the European community. In order to measure the quality and raise the standard of molecular genetic testing in these laboratories, the European Molecular Genetics Quality Network has organized a yearly external quality assessment (EQA) scheme for molecular genetic testing of HD for over 10 years. EQA compares a laboratory's output with a fixed standard both for genotyping and reporting of the results to the referring physicians. In general, the standard of genotyping is very high but the clarity of interpretation and reporting of the test result varies more widely. This emphasizes the need for best practice guidelines for this disorder. We have therefore developed these best practice guidelines for genetic testing for HD to assist in testing and reporting of results. The analytical methods and the potential pitfalls of molecular genetic testing are highlighted and the implications of the different test outcomes for the consultand and his or her family members are discussed.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.