Loeys-Dietz Syndrome (LDS)
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| Gene: |
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TGFBR2;
TGFBR1 |
| Test: |
|
Direct mutation analysis of the entire coding
sequence of TGFBR2
and TGFBR1
by DNA sequencing.
|
CPT Codes:
|
|
TGFBR2:
83891 x 1
83898 x 10
83904 x 15
83909 x 15
83912 x 1
If negative, we
will reflex to TGFBR1:
83898 x 9
83904 x 13
83909 x 13
83912 x 1
|
| Sensitivity: |
|
Approximately
60% of patients with LDS have a TGFBR2
mutation, and 40% will have a TGFBR1
mutation. Mutations
in TGFBR2 have also been identified in
up to 4% of patients with Marfan-like features
(defined in OMIM as the Marfan Syndrome, Type 2
locus).
|
| Cost: |
|
$937 for TGFBR2
$773 for TGFBR1
|
| Turn
Around Time: |
|
4
to 5 weeks for each gene |
| Special
Considerations: |
|
This test is validated only for gene
alterations that contribute to the specified
phenotype. Please
call the laboratory to find out about prices and
codes for prenatal testing, targeted testing for
a known familial mutation or for testing on a
sample other than blood.
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