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Skeletal
Dysplasias –
Campomelic Dysplasia
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| Gene: |
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SOX9
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| Test: |
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Direct mutation analysis by
sequencing entire coding sequence of SOX9
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CPT Codes:
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83891
x 1
83898 x 6
83904 x 12
83909 x 12
83912 x 1
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| Sensitivity: |
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This analysis will detect a
mutation in approximately 75% of patients with
Capomelic Dysplasia. Because a significant number of CD
patients have been described with translocations
or a deletion involving chromosome 17, a high
resolution karyotype should be considered in all
patients who are mutation negative by SOX9
sequencing.
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| Cost: |
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$902 per individual blood sample
Please speak with
the genetic counselor for information, price and
CPT codes for prenatal testing.
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| Turn
Around Time: |
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4
to 5 weeks
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Click here
for Sample Requirements
Click Here for
Requisition and Billing forms
Click here for clinical information on
Campomelic Dysplasia.
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