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Request / Find a test tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Disorders of sex development

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

XX or XY chromosomal sex is confirmed AND one of:
1. Ambiguous genitalia
2. Evidence of gonadal dysgenesis
3. Clinical symptoms of adrenal hypoplasia
4. Under virilisation in an individual assigned male at birth
5. Virilisation in an individual assigned female at birth
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
NOTE: Panel testing may be appropriate in patients with abnormal sex chromosome karyotypes, if on expert review the karyotype result is not thought to explain the DSD phenotype
NOTE: The common Congenital Adrenal Hyperplasia (CAH) gene CYP21A2 is too complex to examine using a next generation sequencing test under this indication. If a diagnosis of CAH due to 21-hydroxylase deficiency is suspected please request additional testing

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

XX or XY chromosomal sex is confirmed AND one of:
1. Ambiguous genitalia
2. Evidence of gonadal dysgenesis
3. Clinical symptoms of adrenal hypoplasia
4. Under virilisation in an individual assigned male at birth
5. Virilisation in an individual assigned female at birth
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
NOTE: Panel testing may be appropriate in patients with abnormal sex chromosome karyotypes, if on expert review the karyotype result is not thought to explain the DSD phenotype
NOTE: The common Congenital Adrenal Hyperplasia (CAH) gene CYP21A2 is too complex to examine using a next generation sequencing test under this indication. If a diagnosis of CAH due to 21-hydroxylase deficiency is suspected please request additional testing

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

Please refer to the test request form.

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

Form not available, please contact us to enquire.

Consent record

See consent guidance in test request form

Sample requirements

Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: Peripheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Samples should arrive within 72 hours Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: DNA extracted using Chelex/Instagene methods is not suitable for this test. Sample Storage and Volume Required: Peripheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Samples should arrive within 72 hours Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: DNA extracted using Chelex/Instagene methods is not suitable for this test.