is a Data Source.
The NIH Genetic Testing Registry (GTR) is NCBI's central database of genetic test information submitted voluntarily by test providers. Each test record covers the test's purpose, methods, analytical and clinical validity, the laboratory offering it, and the conditions and genes it targets. Conditions are identified by MedGen concept IDs with OMIM and SNOMED CT cross-references, and genes by NCBI Gene IDs. NIH does not independently verify submitted information.
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| gtr.portal | GTR Web Portal | gtr | Graphical Interface | http | Web portal for searching genetic test... |
| gtr.xml | GTR Full XML Extraction | gtr_ftp.xml.gz (186.0 MB) | Product | xml | Comprehensive XML extraction of all p... |
| gtr.test_condition_gene | GTR Test, Condition and Gene Table | test_condition_gene.txt | Product | tsv | Tab-delimited listing of every regist... |
| gtr.test_version | GTR Test Version History | test_version.gz (12.5 MB) | Product | tsv | Tab-delimited test version history fo... |
| gtr.docs | About GTR | about | Documentation | http | GTR documentation pages describing th... |
The NIH Genetic Testing Registry (GTR) is a database of genetic test information submitted by test providers, run by NCBI. It covers clinical and research tests for heritable and somatic conditions, pharmacogenetic responses and some microbial tests.
Each test record names the offering laboratory and describes the test’s purpose, methodology, platforms, validity and the conditions and genes it targets. Conditions are identified by MedGen concept unique identifiers, with OMIM and SNOMED CT cross-references where available. Genes are identified by NCBI Gene IDs.
NIH does not independently verify submitted information, and listing a test or laboratory is not an endorsement.
The GTR FTP site (https://ftp.ncbi.nlm.nih.gov/pub/GTR/data/) provides:
gtr_ftp.xml.gz: full XML extraction of all public tests, with monthly copies in xml_archive/.test_condition_gene.txt (also as .xlsx): tests with their target conditions and genes, updated daily.test_version.gz: test version history with laboratory and method details.NCBI asks users who redistribute GTR data to link to the GTR website or cite the 2013 NAR paper.
Created: October 04, 2026 | Last modified: October 04, 2026