Clinical Indication ID & Name
R26
Likely common aneuploidy
Test Group
Core
Specialties
Test code
R26.1
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Common aneuploidy testing
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features strongly suggestive of trisomy 13, 18 or 21, Turner syndrome or other sex chromosome aneuploidy in the postnatal setting
Commissioning group
Core
Overlapping idications
• R297 Possible structural chromosomal rearrangement – karyotype, • R265 Chromosomal mosaicism – karyotype, • R314 Ambiguous genitalia presenting neonatally; plus any other follow-on tests should be considered in cases with a negative result • R401 Common aneuploidy testing - prenatal test should be used for prenatal 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