scholarly journals Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

2008 ◽  
Vol 17 (1) ◽  
pp. 51-65 ◽  
Author(s):  
Els Dequeker ◽  
Manfred Stuhrmann ◽  
Michael A Morris ◽  
Teresa Casals ◽  
Carlo Castellani ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Practice Guidelines ◽  
Best Practice ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Best Practice Guidelines ◽  
Molecular Genetic Diagnosis

scholarly journals EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)

2015 ◽  
Vol 24 (4) ◽  
pp. 479-495 ◽  
Author(s):  
Graça Porto ◽  
Pierre Brissot ◽  
Dorine W Swinkels ◽  
Heinz Zoller ◽  
Outi Kamarainen ◽  
...  
Keyword(s):  
Practice Guidelines ◽  
Best Practice ◽  
Molecular Genetic ◽  
Hereditary Hemochromatosis ◽  
Genetic Diagnosis ◽  
Best Practice Guidelines ◽  
Molecular Genetic Diagnosis

scholarly journals EMQN Best Practice Guidelines for molecular genetic testing of SCAs

2010 ◽  
Vol 18 (11) ◽  
pp. 1173-1176 ◽  
Author(s):  
Jorge Sequeiros ◽  
◽  
Joanne Martindale ◽  
Sara Seneca
Keyword(s):  
Genetic Testing ◽  
Practice Guidelines ◽  
Best Practice ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
Best Practice Guidelines

Comment on: Clinical application of best practice guidelines for genetic diagnosis of MODY2

2012 ◽  
Vol 95 (2) ◽  
pp. e29-e30 ◽  
Author(s):  
A. Salina ◽  
C. Aloi ◽  
L. Pasquali ◽  
A. Mascagni ◽  
M. Cassanello ◽  
...  
Keyword(s):  
Clinical Application ◽  
Practice Guidelines ◽  
Best Practice ◽  
Genetic Diagnosis ◽  
Best Practice Guidelines

scholarly journals EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

2020 ◽  
Vol 28 (10) ◽  
pp. 1341-1367
Author(s):  
Sabina Baumgartner-Parzer ◽  
Martina Witsch-Baumgartner ◽  
Wolfgang Hoeppner
Keyword(s):  
Genetic Testing ◽  
Practice Guidelines ◽  
Best Practice ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
Hydroxylase Deficiency ◽  
External Quality Assessment Scheme ◽  
Best Practice Guidelines ◽  
Analytical Accuracy ◽  
21 Hydroxylase Deficiency

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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