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
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