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GeneTests, a current, comprehensive genetic testing resource

Tutorial and training materials by OpenHelix

Learn to use GeneTests, an integrated resource designed to provide access to current genetic testing and other clinical genetics information. The GeneTests resource includes the Laboratory Directory database, an international directory that identifies the location of clinical laboratories offering genetic testing; and GeneReviews, a collection of up-to-date, comprehensive disease-specific overviews which include clinical descriptions, diagnosis, management, molecular genetics, current genetic testing, and genetic counseling. The goal of GeneTests is to provide a current, comprehensive genetic testing resource designed to integrate appropriate use of genetic testing into patient care.

Note: We have recently learned of the relocation of GeneTests away from NCBI to Bio-Reference Laboratories, Inc., and we are looking into the details for a future update. Currently we are relocating this to the retired tutorials, but retain the information for archival purposes.

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You'll learn:

  • to perform disease-specific searches and navigate the GeneTests site
  • to understand the GeneReviews and Laboratory Directory Displays
  • to access additional searches to query the GeneReviews and Laboratory Directory databases by disease feature, gene and protein specific searches, and more
  • to identify U.S. and international laboratories offering molecular genetic testing for specific disorders, use the Clinical Directory to locate genetics professionals and services, and investigate additional educational and other resources


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  • Ye Olde Tutorials : These tutorials are those that are no longer being updated due to various reasons: the resource is not being updated or maintained any longer, is no longer licensed, etc. Some people may be running legacy copies, however. The materials are still useful and are offered to our users as an additional resource.

Recent BioMed Central research articles citing this resource

Strom P Samuel et al., De Novo variants in the KMT2A MLL ) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing Clinical-Molecular Genetics and Cytogenetics. BMC Medical Genetics (2014) doi:10.1186/1471-2350-15-49

Younesi Erfan et al., From integrative disease modeling to predictive, preventive, personalized and participatory (P4) medicine PPPM in Neurodegenerative Diseases. EPMA Journal (2013) doi:10.1186/1878-5085-4-23

Claes Peter et al., Dysmorphometrics: the modelling of morphological abnormalities. Theoretical Biology and Medical Modelling (2012) doi:10.1186/1742-4682-9-5

Papadaki E Maria et al., Cherubism: best clinical practice International Meeting on Fibrous Dysplasia/McCune-Albright Syndrome and Cherubism International Meeting on Fibrous Dysplasia/McCune-Albright Syndrome and Cherubism: Best Clinical Practice and Future Research. Orphanet Journal of Rare Diseases (2012) doi:10.1186/1750-1172-7-S1-S6

Webb A Elizabeth et al., Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution. Human Genomics (2011) doi:10.1186/1479-7364-5-3-141

More about the resource:

GeneTests is a collection of genetic testing information presented in a format that provides current, up to date status of molecular genetics testing within the larger context of current clinical genetics information for a wide range of human genetic disorders. GeneTests contains extensive clinical laboratory contact information and updated lists of genetic testing offered. GeneTests provides a detailed glossary of molecular genetics terms, related vocabulary. and extensive links to additional resources.


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The materials and slides offered can not be resold or used for profit purposes. Reproduction, distribution and/or use is strictly limited to instructional purposes only and can not be used for for monetary gain or wide distribution.
Copyright 2009, OpenHelix, LLC.

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