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Items for "genetic test"

The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity

Background: The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis started in 2001; public laboratories distributed throughout Italy participated on a voluntary basis.

Methods: The Italian Public Health Institute (Istituto Superiore di Sanità) sent six validated DNA samples to participating laboratories: technical and clinical information was provided for each sample...

Keywords: cystic fibrosis, external quality control programme, genetic test

02/2007 | Clinical Chemical Laboratory Medicine, Walter de Gruyter
Betrachtungen genetischer Epidemiologen zu diagnostischen Tests mit SNP-Markern / A genetic epidemiologist's perspective on diagnostic tests with SNP markers

Zusammenfassung

Zum validen Wissenstranfer neuer Erkenntnisse über Krankheiten und ihre genetischen Komponenten spielt insbesondere die Entwicklung und Beurteilung genetischer Tests in der Labormedizin zur Prävention, Diagnostik und Therapie eine Rolle...

Keywords: Diagnose, Evaluation, genetische Epidemiologie, genetischer Risikofaktor, genetischer Test, Vorhersage, diagnosis, genetic epidemiology, genetic risk factor, genetic test, prediction

07/2006 | LaboratoriumsMedizin, Walter de Gruyter
Genetic testing for adult-type hypolactasia in Italian families

Background: Adult-type hypolactasia is characterized by the inability to digest lactose during adulthood, due to lactase (LCT) deficiency...

Keywords: breath test, genetic test, lactose malabsorption, LCT gene polymorphisms

07/2008 | Clinical Chemical Laboratory Medicine, Walter de Gruyter