Clinical Indication ID & Name
NIPD for cystic fibrosis - haplotype testing
Test Group
NIPD
Specialties
Test code
R304.1
Test name
N/A
Target genes
CFTR
Test scope
Haplotype testing
Test method/ technology
NIPD
Optimal Family Structure
n/a
Eligibility Criteria
Testing Criteria
1. Pregnancy at risk of cystic fibrosis for which NIPD by haplotype testing is required following discussion with testing laboratory, where parents are not consanguineous AND
2. Each partner carries a confirmed variant and DNA is available from both parents, AND
3. DNA is available from either an affected child/pregnancy OR a confirmed unaffected non-carrier child/pregnancy
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.
Testing may not be possible in multiple pregnancies. In such cases contact the laboratory for discussion
Where in Pathway
Testing performed after 8 weeks in pregnancy as confirmed by dating scan
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
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