Johns Hopkins DNA Diagnostic Laboratory

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: Saethre-Chotzen Syndrome

View comparison of available test panels

Gene:    TWIST;  FGFR2; FGFR3
    
Test:   Direct mutation analysis by DNA sequencing;  TWIST; FGFR2 (exon 8); FGFR3 (exon 7)
   
CPT Codes:
  83891 x 1
83898 x 4
83904 x 8
83909 x 8
83912 x 1
Sensitivity:   68%
    
Cost:   $662 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

 Click here for Sample Requirements

Click Here for Requisition and Billing forms

Click here for clinical information on Saethre-Chotzen Syndrome.