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: Jackson-Weiss Syndrome

View comparison of available test panels

Gene:    FGFR2 and FGFR3
   
Test:   Direct mutation analysis by DNA sequencing of FGFR2 (exons 8 and 10) and FGFR3 (exon 7)
  
CPT Codes:
  83891 x 1
83898 x 3
83904 x 6
83909 x 6
83912 x 1
Sensitivity:   Greater than 90%
   
Cost:   $542 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.

 Click here for Sample Requirements

Click Here for Requisition and Billing forms

Click here for clinical information on Jackson-Weiss Syndrome.