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NCBI Genetic Testing Registry

NCBI Genetic Testing Registry (GTR) is the right source when you need gene-centric genetic tests, laboratory offerings, testing methods, or condition-linked diagnostics. In BioMCP, GTR is the local-runtime backbone for the multi-source diagnostic entity: search diagnostic --source gtr stays on the NCBI bundle, while the default --source all route can merge GTR rows with WHO IVD rows and keeps source provenance visible.

BioMCP auto-downloads the GTR test_version.gz and test_condition_gene.txt bulk exports into BIOMCP_GTR_DIR or the default platform data directory on first diagnostic use, refreshes stale data after 7 days, reports GTR local data (<root>) in full health output, and exposes biomcp gtr sync for forced refreshes.

What BioMCP exposes

Command What BioMCP gets from this source Integration note
search diagnostic --gene <symbol> --source gtr Gene-linked genetic test rows Uses the local GTR condition/gene relation bundle for gene-centric lookup
search diagnostic --disease <name> --source gtr Condition-linked GTR diagnostic rows Applies the same bounded disease phrase matching used by the multi-source diagnostic route
search diagnostic --type <method> --source gtr GTR testing-method filtered rows Matches source-native GTR methods
search diagnostic --manufacturer <name> --source gtr Laboratory or provider filtered rows Filters over GTR lab/provider metadata when available
get diagnostic GTR000006692.3 Source-native GTR diagnostic summary card GTR accessions are the detail identifiers
get diagnostic GTR000006692.3 genes Joined gene symbols for the test JSON keeps the full deduped symbol arrays even when markdown rows are compact
get diagnostic GTR000006692.3 conditions Joined condition names for the test Preserves GTR condition provenance
get diagnostic GTR000006692.3 methods GTR source-native testing methods GTR supports genes, conditions, methods, and opt-in regulatory overlay sections
biomcp health GTR local readiness row Reports whether the local bundle is configured, stale, missing, or available at the default path
biomcp gtr sync Explicit GTR refresh Force-refreshes the local GTR bulk files

Example commands

biomcp search diagnostic --gene BRCA1 --source gtr --limit 5

Returns GTR genetic-test rows linked to BRCA1 with accession IDs ready for get diagnostic.

biomcp search diagnostic --disease "hereditary breast cancer" --source gtr --limit 5

Searches GTR condition-linked diagnostic rows using the bounded disease phrase filter.

biomcp get diagnostic GTR000006692.3 genes conditions methods

Fetches a source-native GTR diagnostic card with the main GTR-supported detail sections.

biomcp gtr sync

Force-refreshes the local GTR bulk bundle without waiting for the next automatic refresh.

biomcp health

Shows the GTR local data readiness row alongside WHO IVD and the other local-runtime bundles.

API access

No BioMCP API key required. BioMCP auto-downloads the public GTR bulk files into BIOMCP_GTR_DIR or the default data directory on first use. The optional regulatory section for diagnostic cards is an OpenFDA device overlay and can benefit from OPENFDA_API_KEY; base GTR search and detail do not require a key.

Official source

NCBI Genetic Testing Registry is the official NCBI diagnostic-test registry behind BioMCP's GTR-backed diagnostic workflow. BioMCP reads the public bulk export at https://ftp.ncbi.nlm.nih.gov/pub/GTR/data/.