Molecular Genetic Testing for
Multiple Endocrine Neoplasia Type 2 and Hirschsprung disease
Please send EDTA blood (1ml minimum for neonates, 5ml for children and 10ml for adults) or DNA to Prof. S. Ellard, Molecular Genetics
Laboratory, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5AD with this form. Please fill in as fully as possible
and tick boxes where appropriate.
Clinical Lead: Dr. Bijay Vaidya (01392-402555 or bijay.vaidya@rdeft.nhs.uk)
Consultant Molecular Geneticist: Prof. S. Ellard (01392-402910 or Sian.Ellard@rdeft.nhs.uk)
Patient details
Requestor details
Surname ................................… …………………..
Clinician name ............................…..………………………
First name(s) …………………………………………
Telephone ..........................…………................…………….
Date of birth..............................……………………
Email address …………………………………………………………..
Male
Female
Ethnic origin …………...……
Address for report …………...............................…………..
Patient’s Postcode (UK only)…………………………
………………………………................................……………
NHS No................................…………………………
……………………………………………………………………
Genetics No………………………………………..….
Name/Address for invoice.………………………………….
……………………………………………………………………
…………………………………………………………………..
CLINICAL INFORMATION:
Age at diagnosis……………………….
Multiple Endocrine Neoplasia type 2A and 2B,
Family History
Familial Medullary Thyroid Carcinoma (FMTC)
Details of affected family members
RET gene testing – exons 5,8,10,11,13-16
Yes
No
…………………………………………………………………….
…………………………………………………………………….
MTC
…………………………...
…………………………………………………………………….
Hyperparathyroidism
…………………….……..
…………………………………………………………………….
Phaeochromocytoma
…………………………...
…………………………………………………………………….
……………………...
NB. A pedigree showing clinical details of affected family members would
be very helpful.
Additional features of MEN2B
E.g. Mucosal neuroma, Marfanoid habitus (please state)
If genetic testing has been carried out in this family please give details
below
Hirschprung disease
Testing for known mutation in family member
RET gene testing (exons 1-20)
Initial screen: exons 5,8,10,11,13-16
Is this patient
Affected
Unaffected
(If this patient is affected please give details opposite)
Long-segment
……………………….
Short-segment
……………………….
Total colonic aganglionosis
………………………
Relationship to patient………………………………………….
Total intestinal aganglionosis
………………………
……………………………………………………………………
Test remaining exons if no mutation found in initial
screen? Yes
No
…………………………….
Name of index case/proband ………………………………….
RET mutation details ………………………………………….
Laboratory where testing of index case/proband was
carried out ……………………………………………………….
……..……………………………………………………………..
May 2010