Clinical Indication ID & Name
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
Please refer to the test request form.
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
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: 5ml of peripheral blood in a lithium heparin bottle Storage, sample packing and transportation: Samples should arrive within 72 hours (preferably 24 hours) of sampling. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Do not spin down or freeze samples before sending.