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.

You will 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


This tutorial is a part of the tutorial group Human variations. You might find the other tutorials in the group interesting:

GAD: Genetic Association Database: An archived database associating human genes and polymorphisms with diseases

Madeline 2.0: Human pedigree diagram tools

DrugBank: A chemoinformatics and bioinformatics resource

DGV: Database of Genomic Variants: Database of Genomic Variants, DGV, catalogs and displays structural variation in the human genome

OMIM: Online Mendelian Inheritance in Man (OMIM): A database of human genes, genetic diseases and disorders

CGAP: Characterize the molecular genetic changes that cause a normal cell to become a cancer cell

ENCODE Foundations: ENCyclopedia of DNA Elements

GeneSNPs: An integrated view of gene structure and SNP variations

NIEHS SNPs: National Institute for Environmental Health Sciences Environmental Genome Project (EGP) SNPs

HapMap: HapMap, a database and analysis resource of human variation

Genetics Home Reference: A collection of data describing the effects of genetic variability on human health and disease

dbGaP: A database of genotypes and phenotypes with extensive variation data and clinical details

SeattleSNPs: Human SNPs in genes

dbSNP: NCBI's SNP database


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. References to the use of these tools in the literature may be found, and without examples of the tool features the details may be difficult to understand. The materials are still useful, therefore, and are offered to our users as an additional resource.


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Recent BioMed Central research articles citing this resource

Lebo V Roger et al., Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide. Journal of Translational Medicine (2015) doi:10.1186/s12967-014-0333-8

Thorogood Adrian et al., An implementation framework for the feedback of individual research results and incidental findings in research Ethics in Biomedical Research. BMC Medical Ethics (2014) doi:10.1186/1472-6939-15-88

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

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