Life-saving test for bubs

A BREAKTHROUGH genetic test will allow parents to find out if their newborn has one of 60 terminal or disabling health conditions and get early treatment that could save them.

The NextGen test, designed by Australian genetic experts, can be ordered online and requires parents to simply swab saliva inside their infant’s cheek and mail it for testing.

Results take about one month and are sent to the family’s nominated GP.

Specialist genetic counselling is included in the $980 price tag. Intellectual disability, severe illness and death can be avoided if some of the diseases tested for are picked up early and treated.

Glenn Bennett, director of clinical services for the company Genepath which developed the test, said often it took years for parents to get a diagnosis when children had these rare diseases. Sometimes by the time they were diagnosed the child was too ill to be helped by treatment.

One of the diseases included in the test is severe combined immunodeficiency, where a defective immune sys- tem makes those affected highly susceptible to lifethreatening infections by viruses, bacteria and fungi.

“If you can do a bone-marrow transplant or stem cell transplant the cure rate is better than if you wait until the child gets sick and is diagnosed later,” Dr Bennett said.

Another disease covered in the test, biotinidase deficiency metabolic disorder, prevents sufferers releasing the vitamin biotin from proteins in their diet.

“If you find it early and have a dietary supplement you can prevent intellectual disability,” Dr Bennett said.