Clinical Indication ID & Name
Surfactant deficiency
Test Group
Respiratory
Specialties
Test code
R192.1
Test name
N/A
Target genes
Surfactant deficiency (551)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
1. Neonatal respiratory insufficiency of disproportionate severity for advanced gestation, with clinical and X-ray features consistent with pulmonary surfactant deficiency, AND
2. No other obvious cause for respiratory distress e.g. no difficult delivery, no infection, no prematurity
With or without a known family history of surfactant deficiency
Test code
R192.2
Test name
N/A
Target genes
Surfactant deficiency (551)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Neonatal respiratory insufficiency of disproportionate severity for advanced gestation, with clinical and X-ray features consistent with pulmonary surfactant deficiency, AND
2. No other obvious cause for respiratory distress e.g. no difficult delivery, no infection, no prematurity
With or without a known family history of surfactant deficiency
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