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Oxford University Hospitals NHS Foundation Trust

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Endocrine Services

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

R151 Familial Hyperparathyroidism (CASR, AP2S1 codon 15, CDC73, CDKN1B,MEN1,RET, targeted GCM2)

R152 Hypocalciuric hypercalcaemia (CASR, GNA11, AP2S1 codon 15)

R153 Familial Hypoparathyroidism (AIRE, CASR, GATA3, GCM2, GNA11, PTH, TBCE)

R217 Endocrine Neoplasia/Neoplasms (AIP, CDC73, CDKN1B,MEN1,RET )

R223 Inherited phaeochromocytoma and paraganglioma (FH,MAX, RET,SDHA,SDHAF2,SDHB,SDHC,SDHD,TMEM127,VHL)

R218 Multiple Endocrine Neoplasia type 2 (RET exons 5, 8, 10, 11, 13, 14, 15 &16)

R226 Inherited parathyroid cancer (CDC73)

R319 Calcium sensing receptor (CASR)

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.

The genes sequenced in the above gene panel tests (with the exception of R223) are in accordance with those defined on Genomics England PanelApp; further details are available from https://panelapp.genomicsengland.co.uk/panels/.

 

Last updated: 11-Nov-2019 by Claire Scott

DEPARTMENTS AND SERVICES