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HOW TO FIND A TESTING LABORATORY

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When selecting a laboratory to provide genomic testing for your specific needs, there are many choices to consider. There are hospital and academic laboratories, large reference laboratories, and boutique companies that may all offer similar tests. For clinical testing in the United States, be sure to select a laboratory certified through the Clinical Laboratory Improvement Amendments of 1988 (CLIA).

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Several websites offer searchable databases to assist in finding a laboratory and test. We do not endorse a particular site, but the following are nonexhaustive suggestions.

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Genetic Testing Registry (GTR) (http://www.ncbi.nlm.nih.gov/gtr/)

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This is the official U.S. government website for genetic testing, hosted by the U.S. National Institutes of Health (NIH). It provides more clinical information related to a given gene and condition than other sites, which can be particularly useful for tests sent infrequently or for rare diseases. Filters can also be applied here to narrow by laboratory location, CLIA certification, state licensure, New York State Clinical Laboratory Evaluation Program (CLEP), test methods, specimen type, etc. It is integrated with professional practice guidelines, GeneReviews, consumer resources for patients, ClinicalTrials.gov, and all major genetics authorities such as Online Mendelian Inheritance in Man (OMIM) and Orphanet. The advanced test search enables tailored queries such as panel size, specific genes and conditions, pharmacogenetics, prenatal testing, etc. This resource currently has 32,000 clinical and research tests for Mendelian disorders, drug response, and cancer (germline and somatic).

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GeneTests (genetests.org)

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This site provides labs that perform given gene tests or panels around the world, with the ability to filter based on sequencing method, location, and single gene versus panel. It does not allow filtering by state (could be helpful for insurance reasons), and does not always make it easy to compare gene panels directly to each other. This is a good resource for rare disease genes, or to get a complete list of which labs cover a particular gene of interest. It currently has 55,000 tests.

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NextGxDx (nextGxDx.com)

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This site is more focused on the United States and is user-friendly for comparing larger panels in terms of which genes are on the panel, price, and other factors. By registering, some tests can be ordered and followed through the site. It currently has 60,000 tests.

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Eurogentests (eurogentest.org)

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An excellent resource in Europe, which in addition to laboratory and test information provides a wealth of gene and disease information as well (similar to OMIM).

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HOW TO SELECT A TEST

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There are many clinical diagnostic laboratories (both commercial and academic) around the world that offer a broad range of tests, but little evidence to support the use of one laboratory over another. For simple tests (e.g., targeted genotyping in ...

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