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: Coronal Synostosis

View comparison of available test panels
   

Gene:    FGFR2; FGFR3
   
Test:   Direct mutation analysis by DNA sequencing of FGFR2 (exons 7 and 8**); FGFR3 (exon 7)

** These exons are also called "7 and 9" or "8 and 10" depending on the transcript used for analysis. 
  

CPT Codes   83891 x 1
83898 x 3
83904 x 6
83909 x 6
83912 x 1
Sensitivity:   14-52%
     
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. 
  

 Link to Sample Requirements

Link to Requisition and Billing forms

Link to clinical information on Coronal Craniosynostosis.

Link to Patient and Family Page for general resources on genetic testing.