CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance

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

(2016) C. Sue Richards et al.   GENETICS IN MEDICINE

Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists

(2016) Richard D. Press et al.   GENETICS IN MEDICINE

Newborn Screening

(2015) Susan A. Berry   CLINICS IN PERINATOLOGY

Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys

(2014) Laura J. Tafe et al.   GENETICS IN MEDICINE

Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys

(2014) Elaine Lyon et al.   GENETICS IN MEDICINE

Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population

(2014) Gerald L. Feldman et al.   GENETICS IN MEDICINE

Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders

(2013) C. Sue Richards et al.   GENETICS IN MEDICINE

Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey

(2012) Glenn E. Palomaki et al.   GENETICS IN MEDICINE

Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001–2009)

(2012) Karen E. Weck et al.   GENETICS IN MEDICINE

Validation of an LC–MS/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio A syndrome

(2011) Lisa Argento Martell et al.   Bioanalysis

Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI

(2010) Christiane Auray-Blais et al.   MOLECULAR GENETICS AND METABOLISM

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM

(2008) B. Fowler et al.   JOURNAL OF INHERITED METABOLIC DISEASE