Clinical Indication ID & Name
Multiple endocrine neoplasia type 2
Test Group
Endocrinology
Specialties
Test code
R218.1
Test name
N/A
Target genes
RET
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Testing of individual (proband) affected with endocrine abnormalities where the individual +/- family history meets one of the following criteria. The proband has:
1. MTC (any age), OR
2. ≥2 MEN2-related endocrine abnormalities (any age), OR
3. ≥1 MEN2-related endocrine abnormality and a first degree relative with ≥1 MEN2-related endocrine abnormality
MEN2-related endocrine abnormalities include: Medullary Thyroid Carcinoma (MTC), Phaechromocytoma/paraganglioma, Parathyroid adenoma/hyperplasia, Hirschprungs disease
Test code
R218.2
Test name
N/A
Target genes
Test scope
n/a
Test method/ technology
n/a
Optimal Family Structure
n/a
Eligibility Criteria
n/a
Commissioning group
Specialised
Overlapping idications
• R217 Endocrine neoplasia test should be used where a broader presentation is under investigation
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old