Clinical Indication ID & Name
Ambiguous genitalia presenting neonatally
Test Group
Core
Specialties
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
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
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form