Clinical Indication ID & Name
Common aneuploidy testing - prenatal
Test Group
Core
Specialties
Test code
R401.1
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Common aneuploidy testing
Optimal Family Structure
n/a
Eligibility Criteria
Prenatal findings requiring common aneuploidy testing including:
1. abnormal first trimester combined screening, OR
2. characteristic findings of a common aneuploidy on ultrasound scan
Commissioning group
Core
Overlapping idications
• R22 Fetus with a likely chromosomal abnormality after a second trimester loss where there are fetal anomalies and all third trimester fetal losses (IUD or stillbirth), OR • R21 Fetus with a likely genetic cause
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.