Clinical Indication ID & Name
Congenital adrenal hyperplasia diagnostic test
Test Group
Endocrinology
Specialties
Test code
R180.1
Test name
N/A
Target genes
CYP21A2
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Biochemically diagnosed Congenital Adrenal Hyperplasia (CAH) and at least one of the following:
1. Ambiguous genitalia or virilisation in a female infant at birth, OR
2. Precocious puberty, OR
3. Accelerated pre-pubertal growth childhood with advanced bone age and evidence of adrenal steroid abnormality, OR
4. Salt-losing crisis in the neonatal period, OR
5. Infant electrolyte disturbance
Test code
R180.2
Test name
N/A
Target genes
CYP21A2
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Biochemically diagnosed Congenital Adrenal Hyperplasia (CAH) and at least one of the following:
1. Ambiguous genitalia or virilisation in a female infant at birth, OR
2. Precocious puberty, OR
3. Accelerated pre-pubertal growth childhood with advanced bone age and evidence of adrenal steroid abnormality, OR
4. Salt-losing crisis in the neonatal period, OR
5. Infant electrolyte disturbance
Commissioning group
Specialised
Overlapping idications
• R314 Ambiguous genitalia presenting neonatally test may be required before or in parallel to establish the diagnosis, particularly in the neonatal setting • R146 Disorders of sex development test may be required after urgent neonatal testing if the diagnosis still isn’t clear
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