Phenylketonuria is caused by amutation in the PAH gene. This is an inheritable disorder resulting in the inability to break down the amino acid phenylalanine. Excessive buildup of phenylalanine is toxic to the cells and can damage vital organs.
No specific treatment as it is a genetic disorder with high morbidity.
At Aaranya Biosciences we use Next Generation Sequencing (NGS) to analyze single gene disorders. Our screening test with NGS has an accuracy of 99%.