Clinical Indication ID & Name
R160
Primary pigmented nodular adrenocortical disease
Test Group
Endocrinology
Specialties
Test code
R160.1
Test name
N/A
Target genes
Primary pigmented nodular adrenocortical disease (566)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Primary pigmented nodular adrenocortical disease, OR
Clinical diagnosis of ACTH-independent Cushing syndrome of unknown aetiology.
Test code
R160.2
Test name
N/A
Target genes
Primary pigmented nodular adrenocortical disease (566)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Primary pigmented nodular adrenocortical disease, OR
Clinical diagnosis of ACTH-independent Cushing syndrome of unknown aetiology
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