Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

A practical guide for the validation of genetic tests.

E M Prence1

  • 1Prence Consulting, Ellwood City, PA 16117, USA. eprence@bellatlantic.net

Genetic Testing
|August 28, 1999
PubMed
Summary

Validating genetic tests is challenging due to disease rarity and test variability. This guide offers practical steps for genetic test validation, addressing the lack of existing guidelines for clinical use.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian background.

Journal of medical screening·1997
Same author

Heterozygote screening for Tay-Sachs disease: past successes and future challenges.

Current opinion in pediatrics·1996
Same author

Unusual thermolability properties of beta-hexosaminidase: studies of enzyme from cultured cells and clinical implications.

American journal of medical genetics·1996
Same author

Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.

Journal of medical genetics·1996
Same author

Characterization of clinical assays for leukocyte and fibroblast alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiency.

Clinica chimica acta; international journal of clinical chemistry·1996
Same author

Urine sulfatides and the diagnosis of metachromatic leukodystrophy.

Clinical chemistry·1996

Area of Science:

  • Clinical Laboratory Science
  • Genetics
  • Molecular Diagnostics

Background:

  • Genetic testing validation presents unique challenges, including rare disorders, lack of comparative tests, and disease heterogeneity.
  • Despite recognized needs, no standardized guidelines exist for validating genetic tests before routine clinical implementation.

Purpose of the Study:

  • To address the difficulties in genetic test validation.
  • To provide a practical guide for the validation of genetic tests.

Main Methods:

  • Compilation of suggestions from experienced laboratorians in genetic testing.
  • Incorporation of insights from officials overseeing laboratory testing in the United States.

Main Results:

  • A practical guide for genetic test validation has been developed.
  • The guide synthesizes expert recommendations to overcome validation challenges.

Conclusions:

  • The developed guide offers a practical framework for validating genetic tests.
  • This resource aims to support the reliable introduction of genetic tests into clinical practice.

Related Experiment Videos