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
Clinical Genetics & Genomics Laboratory
Royal Brompton Hospital
2nd (Ground) Floor, Sydney Wing
Sydney Street
London SW3 6NP
Contact with queries
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/
Request form download
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