Endocrine Disorders

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.