OXFORD MEDICAL GENETICS LABORATORIES
CPA Accredited Laboratories
GENETIC TESTING FOR INHERITED ENDOCRINE NEOPLASIA SYNDROMES
AND RELATED DISORDERS
Patient details
Surname…………………………
Date of Birth……………………..
Affected
or
Asymptomatic
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)
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)
First Name …………………………
Hospital No…………………………
) Please provide clinical details of conditions
Genetic Test requested:
 Multiple endocrine neoplasia type 1 (MEN1)
 Multiple endocrine neoplasia type 2 circle MEN2a, MEN2B, or FMTC if known
 Familial isolated hyperparathyroidism (FIHP)
 Familial benign hypocalciuric hypercalcaemia (FBHH)
 Autosomal dominant hypocalcaemic hypercalciuria (ADHH)
 Neonatal Severe Hyperparathyroidism (NSHPT)
 Hypoparathyroidism (circle one: AIRE1, GATA3, PTH, GCM2)
 Hyperparathyroidism- Jaw Tumour type (HPT-JT/HRPT2)
Familial History:
YES ‫ڤ‬
‫ڤ‬
‫ڤ‬
‫ڤ‬
‫ڤ‬
‫ڤ‬
‫ڤ‬
‫ڤ‬
‫ڤ‬
NO ‫ڤ‬
Please provide family tree and names (including maiden names) of affected relatives, if known.
Is mutation known in family member?
YES ‫ڤ‬
NO ‫ڤ‬
Please provide details of mutation and name(s) of affected member(s).
Has consent for test been obtained?
YES ‫ڤ‬
NO ‫ڤ‬
Has genetic counselling been arranged?
YES ‫ڤ‬
NO ‫ڤ‬
If yes, please provide details of geneticist/counseller.
Name………………………………………………………………………………………..
Address ……………………………………………………………………………..
Telephone…………………………. Fax………………………………..
Contact details of Requesting Consultant
Name………………………………………………………………………………………..
Address ……………………………………………………………………………..
Telephone…………………………. Fax………………………………..
Is this address also for Invoice
YES ‫ڤ‬
NO ‫ڤ‬
If No, please provide correct address.
…………………………………………………………………………………………………..
Name of Requester ……………………………… Signature……………………………………
Please send blood (10mls from adult or 2.5mls from child) with EDTA as the anticoagulant, or DNA to: Dr Anneke Seller, Oxford Medical
Genetics Laboratories, Oxford Radcliffe Hospitals, The Churchill, Headington, Oxford, OX3 7LJ.
Contact Details for Enquiries:
Laboratory: Dr Anneke Seller, Genetics Laboratories, Oxford Radcliffe Hospitals, Churchill Hospital, Headington, Oxford, OX3 7LJ. Tel:
01865 225594, Fax: 01865 226006.
Genetic Counselling: Dr Lisa Walker, Consultant Clinical Geneticist, Dept of Clinical Genetics, Churchill Hospital, Headington, Oxford,
OX3 7LJ. Tel: 01865 225421, Fax: 01865 226011.
Clinical and Interpretation of Results: Professor R V Thakker, University of Oxford, Nuffield Dept Clinical Medicine, OCDEM,
Churchill Hospital, Oxford, OX3 7LD. Tel: 01865 857501, Fax: 01865 857502