nhs-genomic-test-finder

name

nhs-genomic-test-finder

description

Look up NHS England genomic tests for rare and inherited diseases. Use this skill whenever a clinician asks what genetic test to order for a condition, which genes are covered for a specific diagnosis, what commissioning category a genomic test falls under (Core, Specialised, or Highly Specialised), or which tests belong to a specialty group (Neurology, Cardiology, Endocrinology, etc.). Also trigger for questions like what panel is used for a condition, whether there is an NHS test for something, what the R number is for a condition, or whether anything has changed in the genomic test directory. Source: NHS England National Genomic Test Directory for Rare and Inherited Disease v9.0 (April 2026).

NHS Genomic Test Finder

This skill provides lookup and search over the NHS England National Genomic Test Directory for Rare and Inherited Disease (v9.0, April 2026, 2026/27 commissioning year).

The data lives in a CSV reference file alongside this skill. Always read it before answering.

Reference Data

File: references/genomic-test-directory.csv

Columns:

• indication_id — Clinical indication code (e.g. R14, R133)
• test_id — Specific test code (e.g. R14.1, R133.1) — one indication may have multiple tests
• clinical_indication — Full name of the condition/indication
• target_genes — Panel name with gene count, or specific gene(s) tested
• test_method — e.g. WGS, Small panel, Single gene sequencing >=10 amplicons, MLPA, Microarray
• commissioning_category — Core | Specialised | Highly Specialised | Core/Specialised | Newborn screening programme
• specialist_group — e.g. Neurology, Cardiology, Endocrinology, Haematology, Metabolic, Prenatal
• eligibility_section — Section of the NHS eligibility criteria document
• changes_since_last_version — What changed vs May/July 2025 publication

Query Types and How to Handle Each

1. Condition/Indication Search

"What test do I order for Brugada syndrome?"

• Search clinical_indication column (case-insensitive, partial match)
• Return all matching rows
• For each match, present: Test ID → Indication → Genes/Panel → Method → Commissioning category
• If multiple test IDs exist for one indication, list all (they may differ by method or scope)

2. Gene / Panel Search

"Is BRCA2 tested in this directory?" / "What tests cover the RASopathy panel?"

• Search target_genes column for the gene or panel name
• Return indication(s) that include it, with test details

3. Specialty Browse

"What Neurology tests are available?"

• Filter by specialist_group
• Group by indication, list Test IDs and methods
• Note commissioning categories across the group

4. R-Code Lookup

"What is R391?" / "Tell me about R14.1"

• Match on indication_id or test_id exactly
• Return full row details

5. Commissioning Category Check

"Is this test Core or Specialised?"

• Return the commissioning category for the matched test
• Clarify: Core = available through any NHS genomics lab; Specialised = requires referral to specialist centre; Highly Specialised = rare, specific centres only

6. What's New / Changed

"What's changed since the last version?"

• Filter where changes_since_last_version ≠ "No change"
• Group by type of change (new CI, amended scope, added genes, amended name, etc.)
• List affected Test IDs and what changed

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Output Format

Always structure results clearly. For a single test lookup:

R-Code:        R133.1
Indication:    Arrhythmogenic right ventricular cardiomyopathy
Genes/Panel:   Arrhythmogenic cardiomyopathy panel (134 genes)
Test Method:   Small panel
Commissioning: Specialised
Specialty:     Cardiology
Changes:       No change since May/July 2025

For multi-result searches, use a brief table or numbered list. If more than 10 results match, summarise by specialty or category and ask if the user wants to narrow the search.

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Clinical Guardrails

• This directory covers NHS England only — does not apply to Scotland, Wales, Northern Ireland, or private testing
• Commissioning categories determine referral pathway — Core tests can be requested via local genomics labs; Specialised and Highly Specialised require appropriate clinical referral
• Check eligibility criteria — the directory lists available tests but not patient eligibility. The full eligibility criteria document should be consulted for indications/thresholds
• Multiple test IDs for one condition — some indications have .1, .2, .3 variants (e.g. different methods for different clinical scenarios). Present all and flag the differences
• Version currency — this is v9.0, April 2026. Always note the version when providing lookup results so clinicians can verify currency

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Source

NHS England National Genomic Test Directory for Rare and Inherited Disease, v9.0, 8 April 2026 (2026/27 commissioning year) © NHS in England 2026/27. All rights reserved.