pfeiffer

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: Pfeiffer Syndrome View comparison of available test panels
Gene:		FGFR1, FGFR2, FGFR3
Test:		Direct mutation analysis by DNA sequencing; FGFR1 (exon 7), FGFR2 (exons 8 and 10) and FGFR3 (exon 7)
CPT Codes:		83891 x 1 83898 x 4 83904 x 8 83909 x 8 83912 x 1
Sensitivity:		Detects >85%
Cost:		$662 per individual blood sample
Turn Around Time:		3 to 4 weeks
Special Considerations:		If targeted testing for a known mutation or prenatal testing is desired, please speak with a genetic counselor prior to shipping a specimen.