Inherited cancers

The laboratory provides the following services (R codes relate to the NHS England National Genomic Test Directory).

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.

Last reviewed:24 May 2022