NHSE funded test referrals should be in accordance with the National Genomic Test Directory for rare disease and meet eligibility criteria: National Genomic Test Directory - NHS England.
- R208 Inherited breast and ovarian cancer
- R207 Inherited ovarian cancer (without breast cancer)
Genetic testing for inherited ovarian cancer (without breast cancer) (R207) - R210 Inherited MMR deficiency (Lynch Syndrome)
- R210.1 Microsatellite instability; please complete a pre-referral form (see referral forms)
- R210.2/R210.5 MMR gene panel (currently offering Lynch like panel)
- R210.3 BRAF V600E (only offered in conjunction with methylation test)
- R210.4 MLH1 hypermethylation
- R211 Inherited polyposis and early onset colorectal cancer - germline testing
Genetic testing for inherited colorectal cancer (polyposis) (R211) - R414 APC associated polyposis
- Prostate cancer panel
- PTEN related conditions
- Li-Fraumeni (TP53)
- Von Hippel Lindau (VHL)
- Inherited pancreatic cancer panel
Endocrine related tumours
- R217 Endocrine neoplasia including (AIP, CDC73, CDKN1B, MEN1, RET); please complete a pre-referral form (see referral forms)
Genetic testing for endocrine neoplasia (R217) - R223 Inherited phaeochromocytoma and paraganglioma (FH, MAX, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL)
Genetic testing for inherited phaeochromocytoma and paraganglioma excluding NF1 (R223) - R218 Multiple endocrine neoplasia type 2 (RET exons 5, 8, 10, 11, 13, 14, 15 and 16)
Genetic testing for multiple endocrine neoplasia type 2 (MEN2) / familial medullary thyroid cancer (FMTC) (R218) - R226 Inherited parathyroid cancer (CDC73)
- Familial isolated pituitary adenoma (AIP)
- Multiple endocrine neoplasia type 1 (MEN1)
- Multiple endocrine neoplasia type 1 (MEN4)
Testing for previously identified familial variants, as clinically appropriate, is available.
For non NHS test requests, individual gene / syndrome testing is available on request, as appropriate.
