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.

[Available Tests]
[Contact Us]  

Bannayan-Riley-Ruvalcaba Syndrome (BRRS)

Gene:     PTEN 
Test:   Sequencing of a portion of the the promoter and the coding regions of PTEN
CPT Code:
Sensitivity:    About 50% (17 to 80%) of BRRS patients have PTEN mutations detectable by sequence analysis.  About 3% of Cowden syndrome & BRRS patients who are sequence negative for PTEN mutations, have PTEN deletions that cannot be detected by sequence analysis.
Cost:   $1434
Turn Around Time:    2 to 3 weeks
Special Considerations:   Clinical history on affected individual is requested.  

 Link to Sample Requirements

Link to Requisition and Billing forms

Additional information on BRRS:
            For Families
            For Health Care Professionals

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