Antley-Bixler like

PLEASE NOTE: Informed consent from the patient is required prior to ordering a genetic test. The DNA Diagnostic Lab's consent is located on the second page of the requisition form. There is also a patient brochure, "Things Every Patient Should Know Before Consenting to a Genetic Test", available for download.

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Craniosynostosis: Antley-Bixler like Syndrome View comparison of available test panels
Gene:		FGFR2
Test:		Direct mutation analysis by DNA sequencing of FGFR2 (exons 8 and 10)
CPT Codes:		83891 x 1 83898 x 2 83904 x 4 83909 x 4 83912 x 1
Sensitivity:		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).


Cost:		$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.
Turn Around Time		3 to 4 weeks