MFS2

PLEASE NOTE: Informed consent from the patient is required prior to ordering a genetic test. The DNA Diagnostic Lab's consent is located on the second page of the requisition form. There is also a patient brochure, "Things Every Patient Should Know Before Consenting to a Genetic Test", available for download.

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Marfan Syndrome, Type 2
Gene:		TGFBR2
Test:		Direct mutation analysis of exons 2 through 7 by DNA sequencing.
CPT Codes:		83891 x 1 83898 x 10 83904 x 15 83909 x 15 83912 x 1
Sensitivity:		Mutations in this gene have been identified in up to 4% of patients with Marfan-like features (defined in OMIM as the Marfan Syndrome, Type 2 locus). TGFBR2 mutations are also identified in approximately 60% of patients with Loeys-Dietz Syndrome.
Cost:		$937
Turn Around Time:		4 to 5 weeks
Special Considerations:		Mutations in TGFBR2 have been reported in tumor tissue from patients with gastric and other cancers. however this assay is not designed to search for familial or somatic mutations associated with cancers and will not provide patients with a cancer risk. Please call the laboratory to find out about prices and codes for prenatal testing and testing for a known familial mutation.