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.
- R151 Familial hyperparathyroidism or hypocalciuric hypercalcaemia panel; please complete a pre-referral form (see referral forms)
Genetic testing for familial hyperparathyroidism (R151) - Hypocalciuric hypercalcaemia; please complete a pre-referral form (see referral forms)
Genetic testing for familial hypocalciuric hypercalcaemia - R153 Familial hypoparathyroidism; please complete a pre-referral form (see referral forms)
Genetic testing for familial hypoparathyroidism (R153) - R217 Endocrine neoplasia / neoplasms; please complete a pre-referral form (see referral forms)
Genetic testing for endocrine neoplasia (R217) - R223 Inherited phaeochromocytoma and paraganglioma
Genetic testing for inherited phaeochromocytoma and paraganglioma excluding NF1 (R223) - R218 Multiple endocrine neoplasia type 2
Genetic testing for multiple endocrine neoplasia type 2 (MEN2) / familial medullary thyroid cancer (FMTC) (R218) - R226 Inherited parathyroid cancer
- R319 Calcium sensing receptor (CaSR)
Genetic testing for calcium sensing receptor (CaSR) (R319) - R156 Carney complex
Genetic testing for Carney complex (R156) - R147 Russell-Silver syndrome
- R267 matUPD14 / Temple syndrome
- R268 patUPD14 / Kagami-Ogata syndrome
- R49 Beckwith-Wiedemann syndrome
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.
