Clinical Indication ID & Name
Disorders of sex development
Test Group
Endocrinology
Specialties
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
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
This test is no longer commissioned by NHS England. This means it is not available to order.
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
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
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