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Craniosynostosis: Antley-Bixler
like Syndrome
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| Gene: |
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FGFR2
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| Test: |
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Direct mutation analysis by
DNA sequencing of FGFR2 (exons 7 and 8**)
** These exons are also called "7
and 9" or "8 and 10" depending on the transcript used for
analysis.
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CPT Codes:
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83891 x 1
83898 x 2
83904 x 4
83909 x 4
83912 x 1
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| Sensitivity: |
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A
subset of patients with clinical features similar to
Antley-Bixler syndrome but who usually have a normal steroid
profile and normal genitalia have been categorized as having
Antley-Bixler like syndrome.
Approximately 47% of these patients have FGFR2
mutations in exons 8 and 10 (Reardon et al 2000 J Med Genet
37:26-32; Huang et al 2005 Am J Hum Genet 76:729-749).
The
majority of patients with Antley-Bixler syndrome have gene
mutations in the gene P450 oxidoreductase, POR (Huang
et al).
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| Cost: |
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$422 per individual blood sample If targeted testing for a
known mutation or prenatal testing is desired,
please speak with a genetic counselor prior to
shipping a specimen.
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| Turn
Around Time |
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3
to 4 weeks
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Link to
Sample Requirements
Link to Requisition and
Billing forms
Link to clinical information on Antley-Bixler
Syndrome.
Link to Patient and Family
Page for general resources on genetic testing.
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