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

R314

Ambiguous genitalia presenting neonatally

Test Group

Core

Specialties

Clinical Genetics Endocrinology Neonatology

Test code

R314.1

Test name

N/A

Target genes

Sex chromosomes

Test scope

n/a

Test method/ technology

Common aneuploidy testing

Optimal Family Structure

n/a

Eligibility Criteria

Neonatal presentation with ambiguous genitalia, where genetic sex requires rapid establishment for management purposes

Test code

R314.2

Test name

N/A

Target genes

Sex chromosomes

Test scope

n/a

Test method/ technology

Karyotype

Optimal Family Structure

n/a

Eligibility Criteria

Neonatal presentation with ambiguous genitalia, where genetic sex requires rapid establishment for management purposes

Commissioning group

Core

Overlapping idications

• R180 Congenital adrenal hyperplasia diagnostic test may be required if aneuploidy test and biochemical investigations suggest this is the likely diagnosis • R146 Disorders of sex development test may be required if underlying diagnosis still unclear after aneuploidy test, CAH test (where relevant) and biochemical investigations

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