Clinical Indication ID & Name
Congenital adrenal hypoplasia
Test Group
Endocrinology
Specialties
Test code
R150.1
Test name
N/A
Target genes
Congenital adrenal hypoplasia (145)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Adrenal insufficiency as defined below, with no evidence of autoimmune Addisons disease, no biochemical evidence of congenital adrenal hyperplasia, and no other identifiable cause:
1. Combined primary glucocorticoid and mineralocorticoid insufficiency, OR
2. Isolated primary glucocorticoid insufficiency, OR
3. Isolated primary mineralocorticoid insufficiency
Test code
R150.2
Test name
N/A
Target genes
Congenital adrenal hypoplasia (145)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Adrenal insufficiency as defined below, with no evidence of autoimmune Addisons disease, no biochemical evidence of congenital adrenal hyperplasia, and no other identifiable cause:
1. Combined primary glucocorticoid and mineralocorticoid insufficiency, OR
2. Isolated primary glucocorticoid insufficiency, OR
3. Isolated primary mineralocorticoid insufficiency
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
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
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