In October 2021, NHS England issued an updated version of the National Genomic Test Directory for 2021/2022, which lists genomic tests commissioned by NHS England via Genomic Laboratory Hubs.
Three documents are available 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.
In 2021/22, twenty new codes (test-indication combinations) were introduced in the cancer field. Some examples are provided below:
- M215.2 - MLH1 promoter hypermethylation test for endometrial cancer;
- M215.4 - Multi-target NGS panel - small variant (MLH1, MSH2, MSH6, PMS2) test for endometrial cancer;
- M88.3 - Multi-target NGS panel - small variant (KRAS, NRAS, TP53, JAK2, CALR, MPL, ASXL1, CBL, CHEK2, CSF3R, CUX1, DNMT3A, EZH2, IDH1, IDH2, IKZF1, KIT, NFE2, SF3B1, SH2B3, SRSF2, TET2, U2AF1, HRAS, RUNX1, SETBP1, ZRSR2, BCOR, PTPN11, FLT3, NF1 & NPM1) for juvenile myelomonocytic leukaemia;
- M88.6 - WGS Germline and Tumour test for juvenile myelomonocytic leukaemia;
- M88.7 - Chr8 copy number FISH test for juvenile myelomonocytic leukaemia;
- M225.5 - Karyotype test for suspected lymphoma.
A total of 115 new codes (test-indication combinations) were introduced for rare and inherited diseases. Some examples are provided below:
- R127.2 - exon-level copy number variations (CNVs) test for Long QT syndrome;
- R129.2 - exon-level CNVs test for catecholaminergic polymorphic ventricular tachycardia (VT);
- R135.2 - WGS (whole genome sequencing) for pediatric or syndromic cardiomyopathy;
- R136.2 - exon-level CNVs test for primary lymphoedema;
- R138.2 - exon-level CNVs test for sudden unexplained death or survivors of a cardiac event;
- R32.2 - WGS for retinal disorders;
- R412.1 - WES (whole exon sequencing) or large panel for fetal anomalies with a likely genetic cause - non-urgent;
- R15.4 - WGS for primary immunodeficiency or monogenic inflammatory bowel disease;
- R413.1 - WES or medium panel for autoinflammatory disorders;
- R58.4 - WGS for adult-onset neurodegenerative disorder;
- R60.3 - WGS for adult-onset hereditary spastic paraplegia;
- R66.2 - exon-level CNVs test for paroxysmal central nervous system disorders;
- R188.2 - exon-level CNVs test (BMPR2) for pulmonary arterial hypertension;
- R192.2 - exon-level CNVs test for surfactant deficiency.
See the full details here.
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