Clinical Indication ID & Name
NIPD using paternal exclusion testing for very rare conditions where familial variant is known
Test Group
NIPD
Specialties
Test code
R249.1
Test name
N/A
Target genes
As per tested relative
Test scope
n/a
Test method/ technology
NIPD
Optimal Family Structure
n/a
Eligibility Criteria
Testing can be offered when paternal exclusion testing can be offered in families at risk of a recessive disorder when parents carry different variants or where the father has an autosomal dominant variant or is known mosaic for a variant. NIPD should only be offered for conditions where invasive testing would otherwise be offered and following discussion with the testing laboratory.
Note: pre-pregnancy work up (R389) is required to enable confirmation that NIPD is possible and to allow timely delivery in pregnancy
Testing should be discussed in advance with the testing laboratory to ensure that necessary samples and validation work has been performed
Testing may not be possible in multiple pregnancies. In such cases contact the laboratory for discussion
Commissioning group
Specialised
Overlapping idications
n/a
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
Form not available, please contact us to enquire.
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