Requirement

Congenital Metabolic Diseases (CMD) are clinical conditions that originate from disorders of various biochemical pathways, mostly in childhood and most of them originate from single gene defects.

With the rapid advances in next generation array analysis technology, many newborn screening programs have become genetically originated.

Especially in the neonatal period, a large number of simultaneous tests are required for life-threatening conditions, and most of the time these babies die before they can be diagnosed.

Solution

Thanks to its small dimensions, it is aimed to develop a system that can be used at the bedside and the application process will result in around 3 hours. This is an unreachable time in the world.

A local diagnostic kit and a bioinformatics analysis tool that can generate a one-click genetic diagnostic report for postnatal screening and diagnostic use of the ten most common CMD diseases.