Clinical Indication ID & Name
Alveolar capillary dysplasia with misalignment of pulmonary veins
Test Group
Respiratory
Specialties
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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form