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: Oculodentodigital Dysplasia

Gene:    GJA1 (Connexin 43)
   
Test:   Direct mutation analysis by DNA sequencing of
GJA1   
CPT Code:
  81479
   
Sensitivity:   ~99%
   
Cost:   $662 per individual blood sample
Please call for prenatal prices
    
Turn Around Time:    2 to 3 weeks
Special Considerations:   If you desire targeted testing of a known mutation or clinical confirmation of a research result, 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 ODDD.

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