Clinical Indication ID & Name
Carney complex
Test Group
Endocrinology
Specialties
Test code
R156.1
Test name
N/A
Target genes
PRKAR1A
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Two or more of the features from the list below (with histological confirmation where relevant), OR
One feature from the list below (with histological confirmation where relevant) and an affected first degree relative:
• Spotty skin pigmentation with typical distribution (lips, conjunctiva, vaginal and penile mucosa)
• Myxoma (cutaneous and mucosal)
• Cardiac myxomas
• Breast myxomatosis or fat-suppressed MRI suggestive of this finding
• PPNAD or paradoxical positive response of urinary glucocorticosteroid excretion to dexamethasone administration during Liddles test
• Acromegaly due to GH-producing adenoma
• Large cell calcifying Sertoli cell tumour (LDDST) or characteristic calcification on testicular ultrasound
• Thyroid carcinoma or multiple, hypoechoic nodules on thyroid ultrasound in a young patient
• Psammomatous melanotic schwannomas (PMS)
• Blue nevus, epithelioid blue nevus
• Breast ductal adenoma
• Osteochondromyxoma
Test code
Test name
N/A
Target genes
Test scope
n/a
Test method/ technology
n/a
Optimal Family Structure
n/a
Eligibility Criteria
Two or more of the features from the list below (with histological confirmation where relevant), OR
One feature from the list below (with histological confirmation where relevant) and an affected first degree relative:
• Spotty skin pigmentation with typical distribution (lips, conjunctiva, vaginal and penile mucosa)
• Myxoma (cutaneous and mucosal)
• Cardiac myxomas
• Breast myxomatosis or fat-suppressed MRI suggestive of this finding
• PPNAD or paradoxical positive response of urinary glucocorticosteroid excretion to dexamethasone administration during Liddles test
• Acromegaly due to GH-producing adenoma
• Large cell calcifying Sertoli cell tumour (LDDST) or characteristic calcification on testicular ultrasound
• Thyroid carcinoma or multiple, hypoechoic nodules on thyroid ultrasound in a young patient
• Psammomatous melanotic schwannomas (PMS)
• Blue nevus, epithelioid blue nevus
• Breast ductal adenoma
• Osteochondromyxoma
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