PLEASE RETURN THIS FORM WITH EDTA BLOOD OR DNA

Molecular Genetic Testing for

Multiple Endocrine Neoplasia Types 1 and 2

  Please send EDTA blood (20ml adults;2.5ml children) or DNA to Dr S. Ellard, Molecular Genetics Laboratory, Royal Devon & Exeter NHS Healthcare Trust, Barrack Road, Exeter EX2 5DW

  Clinical Head: Professor A.T. Hattersley (01392-403089 or A.T.Hattersley@exeter.ac.uk)

Principal Clinical Molecular Geneticist:  Dr S. Ellard (01392-402910 or S.Ellard@exeter.ac.uk)

Please fill in as fully as possible and tick boxes where appropriate.

  Patient details                         Requestor details

Surname ..................................          Clinician name................……….........................

First name(s) ...............................       Telephone................…………............................

                   ................................       Address for report……….....................................

Date of birth................................                 ....…….....................................................

Hospital No..................................       Address for invoice........................................

                                                          ......................................................................………..

Clinical information         Status:           Affected                Asymptomatic

Age at diagnosis      …………

  Multiple Endocrine Neoplasia Type 1           Multiple Endocrine Neoplasia Types 2A, 2B 

                                                                 Familial Medullary Thyroid Carcinoma (FMTC)

           (MEN1 gene testing)                                               (RET gene testing)

Hyperparathyroidism          ………………….…….        MTC                                         

Pituitary tumour (type)      ………………….…….          Hyperparathyroidism                 

Pancreatic tumour (type)   ………………….…….          Phaeochromocytoma                 

Other (please state)           ………………….…….        Additional features of MEN2B      

                                                                             eg Mucosal neuroma, Marfanoid habitus

Family history?                Yes                     No

Please give details:

Affected Grandparent?       Father’s father     ……..……….   Father’s mother  …………

                                      Mother’s father    ………………  Mother’s mother  ……………

Affected Parent?               Father  …………………………   Mother   ………………………

Affected Sibling(s)?           ...................................................................……………………

Affected Children?            ...................................................................……………………

Other affected relatives (cousins, aunts, uncles) ......................................……………………

(NB.  A pedigree showing clinical details of affected family members would be very helpful).

Testing for known mutation in family member?     Yes  

Presymptomatic test?   Yes          MEN1 mutation?    RET mutation?    

Mutation details ……………………………..………….

Name of affected family member in whom mutation was identified …………………………