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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Cowden Syndrome 

Gene:     PTEN 
Test:   Sequencing of a portion of the the promoter and the coding regions of PTEN
     
CPT Codes:
   Complete Sequence

83891 x 1
83898 x 13
83904 x 26
83909 x 26
83912 x 1
Sensitivity:    About 70% (40 to 92%) of Cowden syndrome patients have PTEN mutations detectable by sequence analysis.  About 3% of Cowden Syndrome & Bannayan-Ruvalcaba-Riley  patients who are sequence negative for PTEN mutations, have PTEN deletions that cannot be detected by sequence analysis.
Cost:   $1434
Turn Around Time:    4 weeks
Special Considerations:   Clinical history on affected individual is requested.  
     

Link to Sample Requirements

Link to Requisition and Billing forms

Additional clinical information on Cowden Syndrome:
      For Patients / Families
      For Health Care Professionals

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