|Mnemonic: ||[Unlist Lab]|
|Name: ||FBN1, Full Gene Sequence|
|Specimen: ||3 mL whole blood from a Lavender top tube. Transfusions will interfere with testing for up to 4 to 6 weeks. DNA obtained from white cells may not provide useful information for patients who received a recent transfusion of blood that was not leukocyte-reduced. Wait 4 to 6 weeks until transfused cells have left the patient's circulation before drawing the patient's blood specimen for genotype testing.|
The sample must be submitted with both the Gene Testing Patient Information Sheet and the completed and signed Informed Consent document. Both can be downloaded from the Mayo Laboratory website.
|Minimum Spec: ||0.5 mL|
|Transport Temp: ||Store and transport sample at Room Temperature.|
|Ref Lab/Code: ||Mayo 89308|
|Note: ||Useful For:|
Aiding in the diagnosis of FBN1-associated Marfan syndrome, neonatal Marfan syndrome, autosomal dominant ectopia lentis, isolated ascending aortic aneurysm and dissection, isolated skeletal features of Marfan syndrome, MASS phenotype, Shprintzen-Goldberg syndrome, and autosomal dominant Weill-Marchesani syndrome.
|Processing Info: ||Collection Instructions: Send specimen in original VACUTAINER(S).|
Include physician name and phone number with the specimen.