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

Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2016

Richards C Sue, Palomaki Glenn E, Hegde Madhuri

Abstract excerpt

PURPOSE: The aim of this study was to examine the performance of laboratories offering assessment for myotonic dystrophy type 1 (DM1) using external proficiency testing samples. DM1, a dominant disorder, has a prevalence of 1:20,000 due to the expansion of CTG trinucleotide repeats in the DMPK gene. METHODS: External proficiency testing administered by the College of American Pathologists/American College of...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to DMPK gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Myotonic Dystrophy

Share to Myotonin-Protein Kinase

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 27253733
DOI: 10.1038/gim.2016.59

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.PMID 27253733Read ↗

Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.Semantic proximity Read ↗

Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.Semantic proximity Read ↗

Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey.Semantic proximity Read ↗

Methods-Based Proficiency Testing in Molecular Genetic PathologySemantic proximity Read ↗

Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening ProgramSemantic proximity Read ↗

A pilot study on the application of Oxford Nanopore PromethION sequencing with adaptive sampling for DMPK repeat expansion sizing in myotonic dystrophy type 1.Semantic proximity Read ↗

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)Semantic proximity Read ↗

Phenotype-Driven In Silico Proficiency Testing Represents a Viable Approach for Undiagnosed Disorders by Exome Sequencing.Semantic proximity Read ↗

A Model Study of In Silico Proficiency Testing for Clinical Next-Generation Sequencing.Semantic proximity Read ↗

Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)Semantic proximity Read ↗

Technical standards and guidelines for myotonic dystrophy type 1 testing.Semantic proximity Read ↗

Genotype and Phenotype Concordance for Pharmacogenetic Tests Through Proficiency Survey Testing.Semantic proximity Read ↗

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