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Precision Medicine
FIBRILLIN MUTATION
What you need to know about study FIBRILLIN MUTATION
What is this study and what is it for?
Auxiliary in diagnosing: - Marfan syndrome associated with FBN1. -Autosomal dominant ectopia lentis. -Isolated ascending aortic aneurysm and dissection. -Isolated skeletal features of Marfan syndrome. -MASS phenotype (mitral valve prolapse, increased aortic diameter, striae, MFS skeletal features) -Shprintzen-Goldberg syndrome. -Autosomal dominant Weill-Marchesani syndrome.
What type of sample is needed?
Whole blood
Preparation / Instructions
No special indications
Delivery time
40 business days
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