Clinical Indication ID & Name
Hyperthyroidism
Test Group
Endocrinology
Specialties
Test code
R182.1
Test name
N/A
Target genes
Hyperthyroidism (236)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Hyperthyroidism where common causes have been excluded:
1. Clinical exclusion of common causes such as toxic solitary nodules or multinodular goitre, AND
2. Graves disease excluded by negative TSH receptor autoantibodies when the patient is biochemically hyperthyroid, AND
3. Patient presenting below the age of 18 OR patient has a first degree relative with unexplained hyperthyroidism
Test code
R182.2
Test name
N/A
Target genes
Hyperthyroidism (236)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Hyperthyroidism where common causes have been excluded:
1. Clinical exclusion of common causes such as toxic solitary nodules or multinodular goitre, AND
2. Graves disease excluded by negative TSH receptor autoantibodies when the patient is biochemically hyperthyroid, AND
3. Patient presenting below the age of 18 OR patient has a first degree relative with unexplained hyperthyroidism
Commissioning group
Specialised
Overlapping idications
n/a
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
Rare Disese WGS Clinician pack
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