nhs-genomic-test-finder

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.