An accurate diagnosis is the first step to improving the care and outcomes for those living with classical homocystinuria.
In Australia, babies are tested at birth for classical homocystinuria, but newborn screening (‘heel-prick’) tests unfortunately do not currently detect all of the cases of the disorder. If HCU is diagnosed in the newborn period and treatment is started soon after birth children are able to reach their full potential. If a baby is not diagnosed during newborn screening, over the following years they may end up seeing many different medical specialists before a diagnosis is made.
If not detected by newborn screening the HCU diagnostic journey can be a long and frustrating one for both the individual and their families. The availability of genetic testing has the ability to complement existing newborn screening tests and provide increased opportunity for early diagnosis and intervention.
An Australian pathology company known as Genepath recently launched NextGen, a test which screens for more than 60 serious medical conditions including classical homocystinuria. For more information about the NextGen test click here.