Clinical Indication ID & Name
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
Test Group
Endocrinology
Specialties
Test code
R293.1
Test name
N/A
Target genes
GNAS, PRKAR1A and PDE4D
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with a clear clinical diagnosis of Albright hereditary osteodystrophy, pseudohypoparathyroidism or pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis based on clinical, radiological and/or biochemical assessment
Test code
R293.2
Test name
N/A
Target genes
GNAS DMRs
Test scope
n/a
Test method/ technology
Methylation testing
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with a clear clinical diagnosis of Albright hereditary osteodystrophy, pseudohypoparathyroidism or pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis based on clinical, radiological and/or biochemical assessment
Test code
R293.3
Test name
N/A
Target genes
STX16
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with a clear clinical diagnosis of Albright hereditary osteodystrophy, pseudohypoparathyroidism or pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis based on clinical, radiological and/or biochemical assessment
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