NCBI Genetic Testing Registry: Finding Genetic Tests

The Genetic Testing Registry (GTR) is a directory of genetic tests provided by laboratories, intended for clinicians. Test information is provided voluntarily by test providers.

This tutorial demonstrates how to locate tests for a clinical feature, gene or disease.

Click Next to begin.

GTR Search

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From the GTR home page you have the option to search by Human Tests, Microbe Tests, Conditions/Phenotypes, Genes, Labs and GeneReviews.

Let's look for tests for multiple endocrine neoplasia type 2 (MEN 2).

Select Conditions/Phenotypes.

GTR Search

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Try a search for men2 in the search bar.

Select MEN2: Multiple endocrine neoplasia, type 2 from the autocomplete menu.

GTR Record

From the record for the condition (Multiple endocrine neoplasia, type 2) you can scroll down to Available tests.

View all of them by clicking the link next to Clinical tests.

GTR Tests

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Explore the Filters in the left column to see what kinds of tests are available. You can filter by type, purpose, method, service, and more.

One filter of interest is Laboratory certification. CLIA Certification is something that clinicians may look for. Clinical Laboratory Improvement Amendments (CLIA) certification is done by the Food and Drug Administration (FDA), Center for Medicaid Services (CMS) and the Centers for Disease Control and Prevention (CDC).

Select the CLIA Certified filter.

GTR Tests

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You can also find tests from laboratories in your state using the Laboratory location filter.

Let’s look at tests from labs in Illinois.

GTR Tests

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To learn about a particular test, click on the test name in the main results table.

Let's look at the Hereditary Pheochromocytoma and Paraganglioma Panel from Genetic Services Laboratory.

GTR Tests

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The test information page provides information about the test in the At a Glance section at the top, including the purpose of the test, conditions it is used for, genes, and methods.

Below that, the Ordering Information section provides details about the laboratory and how to order, including Current Procedural Terminology (CPT) codes.

Remember that the records in GTR are maintained by the laboratories. If you have additional questions about the test, be sure to read the Contact Policy in the Ordering Information section and use the contact information in this section of the record.

Conclusion

Congratulations! You now know how to locate tests for a clinical feature, gene or disease using the Genetic Testing Registry.

You can now close the NLM Navigator windows.