An updated version of the National Genomic Test Directory, which specifies which genomic tests are commissioned by the NHS in England, was published on 03 April 2023. A number of changes have been made which impact the genomic tests for Cancer and Rare and Inherited Diseases. Please find a list of the core changes here.
April 4, 2023
To view the full updated National Test Directories, including patient eligibility criteria and information about the clinical specialities who would be expected to request tests, please visit the NHS website: https://www.england.nhs.uk/publication/national-genomic-test-directories/
The North Thames GLH delivers these tests for patients across North London and much of Essex and Hertfordshire. Please visit the section for healthcare professionals if you need further information about ordering a genetic test and ordering whole genome sequencing for your patients.
Updates to the National Genomic Test Directory for Cancer
New clinical indications
| Group | Test and indication |
| Solid Tumours-Adult | M245 Ovarian sex cord stromal tumours by multi-target NGS panel-small variant (FOXL2, CTNNB1, APC, DICER1) |
Other key changes
| Group | Test and indication | Change made |
| Solid Tumours Adult / Paediatric, Teenagers and Young Adults | M1 Colorectal Carcinoma | Update to colorectal carcinoma to clarify the testing in Lynch pathway & other different pathways: 1. Multi-target NGS panel small variant (KRAS, NRAS, BRAF) which can be used to inform treatment of colorectal cancer 2. MLH1, MSH2, MSH6, PMS2, POLE and POLD1 added under a separate Test code to inform Lynch syndrome risk |
| Solid Tumours Adult / Paediatric, Teenagers and Young Adults | M22 Astroblastoma/Diffuse astrocytoma-Paediatric | Addition of MN1, MYB, MYBL1 rearrangements to Multi-target NGS panel – structural variant Addition of MN1, MYB, MYBL1 rearrangements by FISH/RT-PCR |
| Solid Tumours Adult / Paediatric, Teenagers and Young Adults | M25/M26 Ependymoma Paediatric/Adult | Addition of ZFTA fusion-positive to Multi-target NGS panel – structural variant Addition of ZFTA fusion-positive by FISH/RT-PCR |
| Haematological Malignancies | M113 T Prolymphocytic Leukaemia | Addition of full Karyotyping |
| Haematological Malignancies | M111 T cell Non-Hodgkin Lymphoma | Addition of new gene targets: PLCG1, CARD11, IRF4, POT1, VAV1, PLCG1, FYN to Multi-target NGS panel – small variant |
| Haematological Malignancies | M108 Hairy Cell Leukaemia | Detection of Ig gene hypermutation detection multiplex sequencing & Ig gene hypermutation detection NGS |
| Haematological Malignancies | M109 Hairy Cell Leukaemia – Vh4- 34 Variant | Detection of Ig gene hypermutation detection multiplex sequencing & Ig gene hypermutation detection NGS |
| Haematological Malignancies | M181 Hairy Cell Leukaemia -Non-Classical Variant | Detection of Ig gene hypermutation detection multiplex sequencing & Ig gene hypermutation detection NGS |
| Haematological Malignancies | M117 Histiocytosis | Addition of CSF1R to Multi-target NGS panel – small variant. |
| Haematological Malignancies | M91 Acute Lymphoblastic Leukaemia | Addition of new test targets NUTM1, ZNF384, MEF2D-HNRNPH1, DUX4 rearrangements & fusions to multi-target NGS panel – structural variant. |
| Haematological Malignancies | M95 Primary large B-cell lymphoma of immune-privileged sites, particularly those from vitreoretina | Addition of a new target MYD88 (L265P) hotspot |
| Haematological Malignancies | M82 & M224 Myelodysplasia MDS/MPN | Addition of new gene targets BCORL1, CBL, CEBPA, ETNK1, ETV6, FLT3-ITD, FLT3-TKD, GATA2, GNB1, KMT2A-PTD, NF1, NPM1, PRPF8, STAG2, WT1, to Multi-target NGS panel – small variant. Alignment with IPSS score recommendations |
| Haematological Malignancies | M93 Lymphoma resistant to molecularly targeted therapy | Addition of new test targets BTK, PLCG2, RAS, MAP2K1, BCL2 to multi-target NGS panel-small variant |
Updates to the National Genomic Test Directory for Rare and Inherited Disease
New clinical indications
| Clinical indication ID | Clinical indication |
| R430 | Inherited prostate cancer |
| R433 | NIPD for Monogenic diabetes, subtype glucokinase |
| R434 | Recurrent episodic apnoea |
| R436 | Hereditary Alpha Tryptasaemia |
| R438 | Paediatric pseudo-obstruction syndrome |
| R440 | Hereditary isolated diabetes insipidus |
| R441 | Unexplained death in infancy and sudden unexplained death in childhood |
| R443 | Confirmation test |
Other key changes
| Speciality | Test and indication | Change made |
| Neurology | R78 Hereditary neuropathy or pain disorder | Addition of RFC1 STR and clinical indication name update |
| Neurology | R54 Hereditary ataxia with onset in adulthood | Addition of RFC1 STR and update to overlapping indications |
| Various | R69, R54, R55, R56, R57, R58, R60, R61, R78, R381, R84 WGS CIs where the STRs can now be analysed off WGS | Removal of the STR test type line for all neurology WGS Cis where the STRs can now be analysed by WGS. Addition of test code to confirm STRs picked up from WGS analysis |
| Core | R414 APC associated polyposis | Update to eligibility criteria and requesting specialties |
| Core | R208 Inherited breast and ovarian cancer | Update to eligibility criteria and requesting specialties |
| Core | R211 Inherited polyposis and early onset colorectal cancer – germline test | Update to eligibility criteria |
| Inherited cancer | R212 Peutz-Jeghers syndrome | Update requesting specialties |
| Inherited cancer | R213 PTEN Hamartoma Tumour Syndrome | Update to eligibility criteria |
| Inherited cancer | R216 Li Fraumeni Syndrome | Update to eligibility criteria and test target addition POT1 |
| Inherited cancer | R359 Childhood solid tumours | Update to eligibility criteria |
| Inherited cancer | R364 DICER1 Cancer predisposition | CNV analysis test method addition and addition of new requesting specialties |
| Neurology | R58 Adult onset neurodegenerative disorder | Update to eligibility criteria |
| Neurology | R58 Adult onset neurodegenerative disorder | Test target additions to support testing for Cerebral Small Vessel Disease and Amyloid Angiopathy |
| Neurology | R62 Adult onset leukodystrophy | Test target additions to support testing for Cerebral Small Vessel Disease and Amyloid Angiopathy |
| Ophthalmology | R32 Retinal disorders | Gene additions for Inherited Vitreoretinopathy & paediatric retinal detachment |
| Endocrinology | R147 Growth failure in early childhood | Eligibility criteria and gene target update |
| Cardiology | R132 Dilated and arrhythmogenic cardiomyopathy | Update to eligibility criteria |
| Core | R210 Inherited MMR deficiency (Lynch syndrome) | MLH1 promotor methylation added, update to eligibility criteria |
| Core | R70 Spinal muscular atrophy type 1 diagnostic test | Gene addition: SMN2 Clarification added for pre symptomatic testing of siblings |
| Specialist | R71: Spinal muscular atrophy type 1 rare mutation testing | Clarification added for pre symptomatic testing of siblings |
| Metabolic | R98.3 Rapid likely inborn error of metabolism | Addition of semi-rapid testing pathway for WGS indications |
| Immunology | R15.5 Rapid primary immunodeficiency | Addition of semi-rapid testing pathway for WGS indications |
| Renal | R257.3 Rapid unexplained young onset end-stage renal disease | Addition of semi-rapid testing pathway for WGS indications |
| Cardiology | R135.3 Rapid paediatric or syndromic cardiomyopathy | Addition of semi-rapid testing pathway for WGS indications |
| Neurology | R228 Tuberous Sclerosis | Adding a test type for deep sequencing |
| Core | R185 Cystic fibrosis carrier testing | Update to requesting specialties |
| Core | R318 Recurrent miscarriage with products of conception available for testing | Update to overlapping indications |
| Core | R22 Fetus with a likely chromosomal abnormality | Update to eligibility criteria |
| Core | R21 Fetal anomalies with a likely genetic cause | Update to eligibility criteria |
| Inherited cancer | R215 CDH1-related cancer syndrome | Update to eligibility criteria |
| Musculoskeletal | R416 Syndromic & non-syndromic craniosynostosis involving midline sutures | Update to clinical indication name |
| Renal | R202 Tubulointerstitial kidney disease | Update to eligibility criteria |
| Core | R184 Cystic fibrosis diagnostic test | Update to eligibility criteria for clarification |
| Depending on clinical scenario | R370 Validation test | Update to eligibility criteria |
| Depending on clinical scenario | R387 Reanalysis of existing data | Update to eligibility criteria |
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