Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R156

Carney complex

Test Group

Endocrinology

Specialties

Clinical Genetics Dermatology Endocrinology

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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old