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

R180

Congenital adrenal hyperplasia diagnostic test

Test Group

Endocrinology

Specialties

Clinical Genetics Endocrinology Neonatology Paediatrics

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

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