Intellectual disability is characterised by an IQ below 70 and may result in difficulty in communicating, learning concepts, and retaining information.
An intellectual disability may be caused by a genetic condition, problems during pregnancy or birth, illnesses when young, and environmental factors.
Biotinidase deficiency is a rare genetic condition, which results in the body being unable to manage the vitamin biotin.
Some genetic conditions like Biotinidase deficiency cause developmental disability if untreated. The good news is, if it is detected and treated early enough, intellectual disability can be avoided with affected babies having the chance to grow and live healthy functioning lives.
Biotinidase deficiency can be simply treated by a dietary supplement.
The problem is that Biotinidase deficiency is difficult to diagnose and babies appear healthy initially. Usually there is no family history of the disease. By the time a parent suspects something is wrong with their baby it is often too late to stop permanent developmental disability.
Other genetic causes of intellectual disability include Arginase deficiency, Glycine Encephalopathy and Metachromatic Leukodystrophy.
The NextGen Test is the only accredited test to screen newborns for Biotinidase deficiency and other genetic causes of intellectual disability in Australia. Early detection can allow an intellectual disability to be prevented.
Order the NextGen Test
NextGen by Genepath allows you to detect serious medical conditions early, so your baby can undergo treatment to prevent complications:
Accredited by NATA & RCPA, who assure the quality of pathology testing in Australia
Screen for over 50 treatable conditions in a single test
Highly accurate tests (99.6% technical sensitivity & 100% technical specificity)
Australian owned & operated
Choose your NextGen Test
How the NextGen Test Works
We answer your questions and send you the test kit
Post the mouth swab to us
You receive the results from our healthcare professionals
The NextGen Test is simple, easy to use and we work with your doctor to ensure you and your family receive the best possible care.