Clinical Indication ID & Name
R159
Pituitary hormone deficiency
Test Group
Endocrinology
Specialties
Test code
R159.1
Test name
N/A
Target genes
Pituitary hormone deficiency (483)
Test scope
n/a
Test method/ technology
WES or Medium panel
Optimal Family Structure
n/a
Eligibility Criteria
Biochemical evidence of deficiency of at least two pituitary hormones of neonatal or childhood onset.
Test code
R159.2
Test name
N/A
Target genes
Pituitary hormone deficiency (483)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Biochemical evidence of deficiency of at least two pituitary hormones of neonatal or childhood onset.
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
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