Clinical Indication ID & Name
Congenital hypothyroidism
Test Group
Endocrinology
Specialties
Test code
R145.1
Test name
N/A
Target genes
Congenital hypothyroidism (31)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
1. Congenital hypothyroidism, thyroid hypoplasia or agenesis with or without syndromic features, OR
2. Thyroid dyshormonogenesis, OR
3. Raised serum thyroid stimulating hormone (TSH) level:
a. With enlarged thyroid gland, OR
b. In the absence of thyroid autoantibodies
Test code
R145.2
Test name
N/A
Target genes
Congenital hypothyroidism (31)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Congenital hypothyroidism, thyroid hypoplasia or agenesis with or without syndromic features, OR
2. Thyroid dyshormonogenesis, OR
3. Raised serum thyroid stimulating hormone (TSH) level:
a. With enlarged thyroid gland, OR
b. In the absence of thyroid autoantibodies
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