Clinical Indication ID & Name
Linkage testing for congenital adrenal hyperplasia
Test Group
Endocrinology
Specialties
Test code
R388.1
Test name
N/A
Target genes
CYP21A2
Test scope
n/a
Test method/ technology
Linkage analysis
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
R388.2
Test name
N/A
Target genes
Test scope
n/a
Test method/ technology
n/a
Optimal Family Structure
n/a
Eligibility Criteria
n/a
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
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