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: Crouzon Syndrome with Acanthosis Nigricans

View comparison of available test panels

Gene:    FGFR3
     
Test:   Direct mutation analysis by DNA sequencing of FGFR3 (exon 10)
     
CPT Codes:
  83891 x 1
83898 x 1
83904 x 2
83909 x 2
83912 x 1
Sensitivity:   99%
    
Cost:   $302 per individual blood sample
Turn Around Time:    2 to 3 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 Crouzon Syndrome with Acanthosis Nigricans.

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