Literature DB >> 18197058

Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population.

Kristin G Monaghan1, Gerald L Feldman, Glenn E Palomaki, Elaine B Spector.   

Abstract

DISCLAIMER: These Technical Standards and Guidelines were developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date any particular standard or guidelines was adopted, and to consider other relevant medical and scientific information that becomes available after that date.

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Year:  2008        PMID: 18197058     DOI: 10.1097/GIM.0b013e31815f6eac

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  17 in total

1.  BRCA1/2 population screening: embracing the benefits.

Authors:  S E Plon
Journal:  Curr Oncol       Date:  2015-08       Impact factor: 3.677

2.  Can population-based carrier screening be left to the community?

Authors:  Aviad E Raz
Journal:  J Genet Couns       Date:  2009-02-21       Impact factor: 2.537

3.  Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

Authors:  Lisa Kalman; Jean Amos Wilson; Arlene Buller; John Dixon; Lisa Edelmann; Louis Geller; William Edward Highsmith; Leonard Holtegaard; Ruth Kornreich; Elizabeth M Rohlfs; Toby L Payeur; Tina Sellers; Lorraine Toji; Kasinathan Muralidharan
Journal:  J Mol Diagn       Date:  2009-10-08       Impact factor: 5.568

4.  Jewish genetic screening grows despite questions about breadth.

Authors:  Elie Dolgin
Journal:  Nat Med       Date:  2011-06       Impact factor: 53.440

5.  Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.

Authors:  Sachiko Nakagawa; Jie Zhan; Wei Sun; Jose Carlos Ferreira; Steven Keiles; Tina Hambuch; Anja Kammesheidt; Brian L Mark; Adele Schneider; Susan Gross; Nicole Schreiber-Agus
Journal:  JIMD Rep       Date:  2012-01-31

6.  Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Authors:  Stuart A Scott; Lisa Edelmann; Liu Liu; Minjie Luo; Robert J Desnick; Ruth Kornreich
Journal:  Hum Mutat       Date:  2010-11       Impact factor: 4.878

7.  Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

Authors:  Alessandra Colaianni; Subhashini Chandrasekharan; Robert Cook-Deegan
Journal:  Genet Med       Date:  2010-04       Impact factor: 8.822

8.  The Israeli national population program of genetic carrier screening for reproductive purposes.

Authors:  Joël Zlotogora; Itamar Grotto; Ehud Kaliner; Ronni Gamzu
Journal:  Genet Med       Date:  2015-04-16       Impact factor: 8.822

Review 9.  Tay-Sachs disease: current perspectives from Australia.

Authors:  Raelia M Lew; Leslie Burnett; Anné L Proos; Martin B Delatycki
Journal:  Appl Clin Genet       Date:  2015-01-21

10.  High-throughput carrier screening using TaqMan allelic discrimination.

Authors:  Anastasia Fedick; Jing Su; Chaim Jalas; Lesley Northrop; Batsal Devkota; Josef Ekstein; Nathan R Treff
Journal:  PLoS One       Date:  2013-03-26       Impact factor: 3.240

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