Clinical Indication ID & Name
Prenatal testing
Test Group
Core or Specialised; depending on the clinical scenario.
Specialties
Test code
R448.1
Test name
N/A
Target genes
Test scope
Small variants, CNVs, STRs
Test method/ technology
Targeted variant testing
Optimal Family Structure
n/a
Eligibility Criteria
Ongoing pregnancy requiring prenatal testing for a specific disorder where the familial variant(s) have already been identified in a relative
Commissioning group
Singleton
Overlapping idications
n/a
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Form not available, please contact us to enquire.
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample submitted for testing must meet the following requirements to be accepted: • All samples must be clearly labelled with a minimum of three patient identifiers (e.g., full name, date of birth, NHS number) and must clearly state the sample type on the sample container. • A fully completed request form must accompany each sample, and it must match the information provided on the sample container. Samples may be rejected for testing under the following circumstances: 1. The patient does not meet the eligibility criteria outlined in the NHS England (NHSE) Test Directory. 2. The sample and accompanying request form do not share at least three matching patient identifiers. 3. The sample has been submitted in the incorrect medium or container. 4. The volume of the sample is not sufficient for the required testing procedures. 5. The request form is missing required information, such as clinical details or test requested. 6. The sample is deemed too old upon arrival at the laboratory