Craniofrontonasal Syndrome (CFNS)
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| Gene: |
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EFNB1 |
| Test: |
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Direct
mutation analysis by gene sequencing of the coding regions of EFNB1
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CPT Codes:
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|
Complete Sequence
83891 x 1
83898 x 7
83904 x 14
83909 x 14
83912 x 1
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| Sensitivity: |
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About
73% of patients with a clinical diagnosis of craniofrontonasal
syndrome have an EFNB1
gene mutation that can be detected by sequence analysis of the
exons and surrounding splice junctions.
At least 6% of patients have large deletions and some
patients may have mutations in a second locus(Xp22). This
assay will not detect mosacism.
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| Cost: |
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$1022
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| Turn
Around Time: |
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4
to 5 weeks |
| Special Considerations: |
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Somatic
mosaicism has been described in 10-15% of families; thus, it
may not always be possible to detect the pathogenic EFNB1
mutation in the first affected family member.
A
brief clinical
history on the patient and a three-generation pedigree are
requested.
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Link to
Sample Requirements
Link to Requisition and
Billing forms
Link to clinical information on Craniofrontonasal Syndrome
Link to Patient and
Family Page for general resources on genetic testing.
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