Pulmonary Surfactant Metabolism dysfunction type 2 (SMDP2) is caused by mutations in the SFTPC gene. It is an autosomal dominant disease associated with interstitial lung disease with a variable clinical course.
Also known as
Surfactant protein C 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
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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