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Marfan Syndrome,
Type 2
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| Gene: |
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TGFBR2
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| Test: |
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Direct mutation analysis of the entire coding
sequence by DNA
sequencing.
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CPT Codes:
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83891 x 1
83898 x 10
83904 x 15
83909 x 15
83912 x 1
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| Sensitivity: |
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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.
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| Cost: |
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$937
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| Turn
Around Time: |
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4
to 5 weeks |
| Special
Considerations: |
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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.
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Link to
Sample Requirements
Link to Requisition and
Billing forms
Link to clinical information on Marfan Syndrome, Type 2.
Link to Patient and Family
Page for general resources on genetic testing.
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