Pulmonary surfactant metabolism dysfunction-3 (SMDP3) is an autosomal recessive disorder found in infants with severe neonatal respiratory distress and older children with interstitial lung disease caused by mutations in the ABCA3 gene.
Also known as
ABCA3 deficiency, Surfactant deficiency
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Disease / group
Call in advance?
Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis