Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R330

Alveolar capillary dysplasia with misalignment of pulmonary veins

Test Group

Respiratory

Test code

R330.1

Test name

N/A

Target genes

FOXF1

Test scope

n/a

Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

1. Respiratory distress and severe pulmonary hypertension presenting within the first two days of life, and without any sustained response to supportive measures, AND
2. Additional malformations affecting cardiac, gastrointestinal and genitourinary systems

Test code

R330.2

Test name

N/A

Target genes

FOXF1

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

1. Respiratory distress and severe pulmonary hypertension presenting within the first two days of life, and without any sustained response to supportive measures, AND
2. Additional malformations affecting cardiac, gastrointestinal and genitourinary systems

Commissioning group

Specialised

Overlapping idications

n/a

Address for samples/request forms

Clinical Genetics & Genomics Laboratory
Royal Brompton Hospital
2nd (Ground) Floor, Sydney Wing
Sydney Street
London SW3 6NP

Contact with queries

geneticslab@rbht.nhs.uk

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/

Consent record

See consent guidance in test request form

Sample requirements

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