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FBN1, Full Gene Sequence

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.