Paraganglioma (PGL) Screening

Our ongoing studies are likely to benefit PGL families more than ever. The identification of the PGL genes has important and immediate implications for the clinical management of PGL patients and their families. The substantial genetic component in the development of PGL tumors can often be obscured by imprinting and low-gene penetrance (i.e., some susceptible gene-carrier individuals may not develop tumors until very advanced ages).

All at-risk relatives of an affected individual, regardless of the presence of a positive family history, should be tested for mutations. This enables the clinician to identify individuals with the risk of developing tumors and to employ radiographic screenings on a selective basis. Early detection of PGL tumors and early intervention will decrease the risks of surgery and the need for costly rehabilitation.

The screening process for detection of the PGL gene is very simple. Our lab can fax or mail a requisition to you or your physician / genetic counselor to have 1-2 tubes (purple top) of blood drawn. This will also include instructions on sample collection and shipping. If you are going to have clinical testing, you will need to see a genetic counselor in your area to talk or the laboratory staff is available to discuss the genetic testing process so it can be fully explained to you. After this visit, a sample of your blood (or DNA) will be sent to our clinical laboratory where it will be tested for known genetic alterations that may cause paraganglioma tumors. Your physician / genetic counselor will obtain informed consent and will receive the results for disclosure to you. Results are usually available in four to six weeks. To obtain further information about genetic testing, please contact:

Jeffrey A. Kant, MD, PhD
Professor of Pathology and Human Genetics
Director, Division of Molecular Diagnostics

Address:

University of Pittsburgh Medical Center
3550 Terrace Street, 701 Scaife Hall
Pittsburgh PA 15213

Phone:

412-648-8519

Fax:

412-383-9594

E-mail:

kantja@upmc.edu

If you would like more information about the Paraganglioma Program, please e-mail Mary Jo Tutchko, Administrative Coordinator, or call her at 412-647-2111.

For more information about any of the services available at UPMC Cancer Centers, please call the UPMC Cancer Centers Information and Referral Service at 412-647-2811 or send us an e-mail via "Ask a Question Online.