Index Patrick Brophy Research Lab – Mutational Analysis

Approximately 150,000 babies are born each year with some type of birth defect. Congenital anatomic anomalies of the genitourinary (GU) tract are more common than those of any other organ system, affecting as many as 1 in 10 babies and are responsible for roughly 40% of the cases of childhood end-stage renal failure in the United States.

This website is a physician resource dedicated to coordinating linkage and mutational analysis research in selected disorders of the genitourinary tract. Currently we are enrolling eligible individuals and families to analyze genetic lesions associated with Bilateral Renal Agenesis, Bilateral Hydronephrosis and forms of Potter Sequence/Syndrome due to kidney and urinary tract abnormalities.

We ask that physicians review the Informed Consent Documents with the participating family that they are enrolling. Opening the appropriate Project Page below will provide more information about the project and the Informed Consent Document associated with it, which can then be downloaded or printed out.

The genetic analyses that our research group conducts are investigational and are performed in the setting of a research laboratory, and there are no universal standards for the performance of these studies. The investigators endeavor to attain the highest standards in their analysis. Nevertheless, these analyses should not be considered diagnostic tests but rather investigational genetic tests, not intended to replace other clinical or laboratory evaluations or treatments that would otherwise be considered the standard of care.

The researchers will only provide genetic test results for participants that have already been diagnosed by their physician as having a congenital or developmental abnormality of the genitourinary (GU) tract. These results will not be given directly to the participants, but will be communicated to their physician in the form of a letter. The physician should refer the participant(s) to genetic counseling to discuss the results with the family. Participants have the option to not receive their results from these analyses, should they choose.

Thank you for taking the time to view our website and support our research.