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Baby Genes, PKU Alliance Launch Genetic Testing Program

NEW YORK (360Dx) – The National PKU Alliance and Baby Genes said this week that they are launching a program to allow easy access to genetic testing for people with phenylketonuria, and their families.

The new program aims to assist hundreds of people diagnosed with PKU — an inherited metabolic disorder that's diagnosed at birth through newborn screening — in obtaining simple and affordable access to mutation analysis of the PAH gene responsible for the condition.

Phenylketonuria increases the level of a substance called phenylalanine in the blood. If untreated, the buildup can cause intellectual disability and other serious health problems. 

Individuals and their family members enrolled in the PKU Patient Registry recently launched by the National PKU Alliance have access to the new program. 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.

Baby Genes’ full-gene sequencing technology identifies specific mutations associated with PKU and provides test results within 96 hours. 

Through the program, people learn their specific gene mutations, and this will facilitate the advance of new treatments and provide a better understanding of the disease process for those in PKU research, NPKUA and Baby Genes said in a statement, adding that a cure for PKU is not available, and "lifelong treatment is difficult and expensive, imposing unmanageable burdens for many individuals and their families."