The NPKUA has partnered with Baby Genes Inc. to assist hundreds of people diagnosed with Phenylketonuria (PKU) obtain simple and affordable access to mutation analysis of the PAH gene responsible for PKU. Baby Genes' full gene sequencing technology provides accurate, efficient results identifying specific mutations associated with PKU. Currently, access to mutation analysis is not standard of care in PKU.
Through the Baby Genes
program, individuals will learn their specific gene mutations which will facilitate the advancement of new treatments and provide a better understanding of the disease process for those in PKU research.
This program is currently open to any individual or family member enrolled in the PKU Patient Registry. The goal of the PKU Patient Registry is to collect information to help medical providers better understand the natural history and progression of PKU and provide opportunity for more robust research and ultimately a cure.
And at the end of September - we will be selecting the name of one individual who has completed the genetics survey in the PKU Registry to receive mutation analysis free of charge. This is the perfect time to complete this short and very important survey. Get Started today!
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