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

R146

Disorders of sex development

Test Group

Endocrinology

Specialties

Clinical Genetics Endocrinology Gynaecology

Test code

R146.1

Test name

N/A

Target genes

Genomewide

Test scope

n/a

Test method/ technology

Microarray

Optimal Family Structure

n/a

Eligibility Criteria

46,XX or 46,XY karyotype AND one of:
1. Ambiguous genitalia
2. Evidence of gonadal dysgenesis
3. Clinical symptoms of adrenal hypoplasia
4. Under virilisation in a male
5. Virilisation in a female
6. Urine steroid profile suggestive of DSD
7. Pubertal failure
8. Precocious puberty
9. Primary amenorrhea
10. Very early onset hypertension with evidence of pubertal or electrolyte disturbance

Test code

R146.2

Test name

N/A

Target genes

Disorders of sex development (9)

Test scope

n/a

Test method/ technology

WES or Medium panel

Optimal Family Structure

n/a

Eligibility Criteria

46,XX or 46,XY karyotype AND one of:
1. Ambiguous genitalia
2. Evidence of gonadal dysgenesis
3. Clinical symptoms of adrenal hypoplasia
4. Under virilisation in a male
5. Virilisation in a female
6. Urine steroid profile suggestive of DSD
7. Pubertal failure
8. Precocious puberty
9. Primary amenorrhea
10. Very early onset hypertension with evidence of pubertal or electrolyte disturbance

Test code

R146.3

Test name

N/A

Target genes

Disorders of sex development (9)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MPLA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

46,XX or 46,XY karyotype AND one of:
1. Ambiguous genitalia
2. Evidence of gonadal dysgenesis
3. Clinical symptoms of adrenal hypoplasia
4. Under virilisation in a male
5. Virilisation in a female
6. Urine steroid profile suggestive of DSD
7. Pubertal failure
8. Precocious puberty
9. Primary amenorrhea
10. Very early onset hypertension with evidence of pubertal or electrolyte disturbance

Commissioning group

Specialised

Overlapping idications

• R314 Ambiguous genitalia presenting neonatally should be used to establish karyotypic sex in urgent neonatal situations • R180 Congenital adrenal hyperplasia diagnostic test should be used before the panel test where CAH is the likely diagnosis; the common CAH gene CYP21A2 is too complex to examine using a next generation sequencing test under this indication • R297: Possible structural chromosomal rearrangement - karyotype may be required to identify structural sex chromosome abnormalities which might not be detected via common aneuploidy testing

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