Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics

@inproceedings{Maddalena2001TechnicalSA,
  title={Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics},
  author={Anne Maddalena and C Sue Richards and Matthew J. McGinniss and Arthur R. Brothman and Robert J Desnick and Robert E. Grier and Betsy Hirsch and Peter B Jacky and Geraldine A. McDowell and Bradley Popovich and Michael S. Watson and Daynna J. Wolff},
  booktitle={Genetics in medicine : official journal of the American College of Medical Genetics},
  year={2001}
}
Preface: The Quality Assurance subcommittee of the ACMG Laboratory Practice committee has the mission of maintaining high technical standards for the performance and interpretation of genetic tests. In part, this is accomplished by the publication of the document “Standards and Guidelines for Clinical Genetics Laboratories,” which was published in its second edition in 1999 and is now maintained online (see www.faseb.org/genetics/acmg/ index.html). This subcommittee also reviews the outcome of… CONTINUE READING

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