An updated version of the 2021/22 National Genomic Test Directory released in England


May 2022

On April 21, 2022, NHS England and NHS Improvement updated the 2021/22 National Genomic Test Directory (version 3), which lists genomic tests commissioned by NHS England via Genomic Laboratory Hubs. All three documents within the Directory were updated, specifying tests codes, clinical indications, the technology by which tests are available, and eligibility criteria for patients:

  • National Genomic Test Directory for cancer;
  • National Genomic Test Directory for rare and inherited diseases;
  • Rare and inherited disease eligibility criteria.

Forty-two new codes (test-indication combinations) were introduced, and ten codes were removed in the cancer field. Some examples are presented below:

  • M233.1 – Whole-genome sequencing (WGS) Germline and Tumour for high grade serous ovarian carcinoma;
  • M215.5 - Multi-target NGS panel-small variant detection POLE for endometrial cancer;
  • M234.1 - WGS Germline and Tumour for triple-negative breast cancer;
  • M7.5 - MYB & 6cen for melanoma in adults;
  • M7.10 - Copy number variant detection to genomewide resolution for melanoma in adults;
  • M241.2 - RREB1 (6p25) for conjunctival melanoma;
  • M9.6 - TERT promoter hotspot for thyroid papillary carcinoma in adults;
  • M240.1 - Multi-target NGS panel - small variant (BRAF, HRAS, NRAS, KRAS) for non-invasive follicular thyroid neoplasm with papillary like Nuclei;
  • M220.6 - Multi-target NGS panel -small variant (IDH1) for cholangiocarcinoma;
  • M236.2 - DPYD hotspot for oesophageal cancer;
  • M232.1 - WGS Germline and Tumour for solid tumor exhausted all standards of care testing and treatment in adults;
  • M53.7 - ZC3H7B-BCOR rearrangement FISH/RT-PCR for endometrial stromal sarcoma;
  • M79.7 - DDIT3 copy number RT-PCR/ddPCR for well-differentiated/dedifferentiated liposarcoma;
  • M235.1 – WGS Germline and Tumour for proven or suspected hematological tumors exhausted all standard of care testing and treatment.

Fourteen new codes (test-indication combinations) were introduced for rare and inherited diseases. Some examples are presented below:

  • R417.1 - Multi Locus Imprinting Disorder (Multiplex ligation-dependent probe amplification (MLPA), PLAGL1, GRB10, MEST, H19, KCNQ1, GTL2, SNRPN, PEG3, GNAS);
  • R417.2 - Multi Locus Imprinting Disorder (small panel, NLRP5, NLRP7, NLRP2, PAD16, KHDC3L);
  • R420.2 - Pseudoxanthoma elasticum (exon-level copy number variations (CNV) detection by MLPA or equivalent, ABCC6, ENPP1);
  • R423.1 - NIPD for retinoblastoma (RB1);
  • R422.2 - BAP1 associated tumor predisposition syndrome (exon-level CNV detection by MLPA or equivalent);
  • R299.3 - Possible mitochondrial disorder - mitochondrial DNA rearrangement testing (breakpoint mapping);
  • R419.2 - Acute rhabdomyolysis (exon-level CNV detection by MLPA or equivalent, 65 gene target panel to be created on PanelApp);
  • R421.1 - Pulmonary fibrosis, familial (medium panel, 25 gene target panel to be created on PanelApp);
  • R424.1 - Subcutaneous panniculitis T-cell lymphoma (single-gene sequencing <=10 amplicons, HAVCR2).

Other amendments in the Directory for rare and inherited diseases include adding new target genes to existing codes, merging codes, changes in clinical indications names, and changing the test methods.

See the full details here.

This news is just one of about 300 market access news collected by our team in the subscription services "HTA Alerts" and "Reimbursement Alerts" every two weeks from more than 80 organizations. Access our paid subscription services to stay on top of all developments specifically for your products in Europe (reimbursement news) and globally (HTA news). First EU issues of both newsletters are available for download free-of-charge.

Not ready for a subscription service? Subscribe to our free-of-charge newsletter delivered every second week to get updates about key reimbursement developments in Europe (10-12 news every two weeks).

The latest related news


Dec 2022

On November 15, 2022, a new body called “Organization for Outpatient Physician Tariffs AG (OAAT)” was founded under the leadership of the Bernese government councillor. It involves all tariff partners (associations of health insurers curafutura and santésuisse, as well as the association of hospitals H+, the association of physicians FMH, and medical tariff commission MTK/CTM), who have joined forces in order to reach the goal of improving the outpatient reimbursement system.

Read more


Dec 2022

In November 2022, NHS Accelerated Access Collaborative decided not to add new technologies to MedTech Funding Mandate (MTFM) in 2023/24. Instead, Integrated Care Systems (ICSs) are asked to prioritize the appropriate adoption of currently supported technologies where this has not yet occurred. The MTFM supports eleven NICE-approved and cost-saving devices, diagnostics, and digital products, making them mandatory for implementation and funding.

Read more


Nov 2022

In November 2022, the National Board of Health and Welfare released the Swedish version of the NordDRG system to come into force in January 2023, including the list of DRG codes, names, and cost-weights. A total of 77 new DRGs will be implemented. Key new DRGs were introduced in cardiovascular, gastrointestinal, and endoscopy fields, also for breast reconstruction and bone-anchored hearing implants.

Read more


Nov 2022

The new version of the classification of procedure codes (CCAM v.71), applicable from December 03, 2022, was published in France. Several changes were introduced, including the creation of four new codes related to ENT, pulmonary and airways, and interventional radiology areas. Also, the modification of tariffs for 50 dental procedure codes will enter into force on January 01, 2023.

Read more


Nov 2022

In November 2022, NHS Digital published a final summary of core changes from OPCS-4.9 to OPCS-4.10 to be introduced from April 01, 2023. OPCS-4 is a statistical classification for clinical coding of interventions and procedures undertaken within the NHS. It is updated every three years. A total of 236 new four-character codes will be implemented in OPCS-4.10. Key changes concern cardiovascular, gastrointestinal, endoscopy, ENT, nephrology and urology, neurology and neurosurgery, obstetrics and gynecology, orthopedic, and breast surgery fields.

Read more