ArticleEuropean journal of human genetics : EJHG2020
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers.
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71 citing papers in PubMed, 103 citations in OpenAlex.
- Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India.Indian journal of pediatrics · 2026Article
- A Comprehensive Pipeline for the Use of Short Read Next-Generation Sequencing (SR-NGS) inCurrent issues in molecular biology · 2026Article
- Short-Read NGS of a Long-RangeInternational journal of molecular sciences · 2026Article
- Integrated mapping resolves pathogenicity of 11Journal of the Endocrine Society · 2026Article
- Congenital and infantile nephrotic syndrome: genotype-phenotype associations.Pediatric research · 2026Article
- [Congenital adrenal hyperplasia].Problemy endokrinologii · 2026Review
- Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.European journal of human genetics : EJHG · 2026Article
- Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.The Journal of clinical endocrinology and metabolism · 2026Article
- Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia.Frontiers in genetics · 2026Article
- Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques.Frontiers in endocrinology · 2026Review
- Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.Genome medicine · 2025Article
- 21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation.Archives of disease in childhood · 2025Article
- Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing.Orphanet journal of rare diseases · 2025Article
- Long-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients.Journal of ovarian research · 2025Article
- Predicting Residual 21-Hydroxylase Enzymatic Activity in Pediatric and Adult Congenital Adrenal Hyperplasia Patients: Towards Individualized Therapy.CPT: pharmacometrics & systems pharmacology · 2025Article
- A Case of Salt-Wasting Congenital Adrenal Hyperplasia Caused by a Rare Intronic Variant in theInternational journal of molecular sciences · 2025Article
- Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases.HGG advances · 2025Article
- Histopathological Features of the Testes of a Patient With Congenital Lipoid Adrenal Hyperplasia.IJU case reports · 2025Article
- Longitudinal 12-Month Follow-Up of a Male Infant withAJP reports · 2025Article
- Genotype-Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Using Next Generation Sequencing.Molecular genetics & genomic medicine · 2025Article
11 more citing papers are in PubMed but not listed here.
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3 authors at 3 institutions in 2 countries.
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Abstract
Molecular genetic testing for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is offered worldwide and is of importance for differential diagnosis, carrier detection and adequate genetic counseling, particularly for family planning. In 2008 the European Molecular Genetics Quality Network (EMQN) for the first time offered a European-wide external quality assessment scheme for CAH (due to 21-OH deficiency). The interest was great and over the last years at about 60 laboratories from Europe, USA and Australia regularly participated in that scheme. These best practice guidelines were drafted on the basis of the extensive knowledge and experience got from those annually organized CAH-schemes. In order to obtain the widest possible consultation with practicing laboratories the draft was therefore circulated twice by EMQN to all laboratories participating in the EQA-scheme for CAH genotyping and was updated by that input. The present guidelines address quality requirements for diagnostic molecular genetic laboratories, as well as criteria for CYP21A2 genotyping (including carrier-testing and prenatal diagnosis). A key aspect of that article is the use of appropriate methodologies (e.g., sequencing methods, MLPA (multiplex ligation dependent probe amplification), mutation specific assays) and respective limitations and analytical accuracy. Moreover, these guidelines focus on classification of variants, and the interpretation and standardization of the reporting of CYP21A2 genotyping results. In addition, the article provides a comprehensive list of common as well as so far unreported CYP21A2-variants.
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