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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form