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
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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form