New DNA Screening Test Can Detect Rare Genetic Disorders In Babies

Sydney-based pathology company Genepath has created a new DNA Home Test Kit called the NextGen test that can screen babies for more than 60 genetic conditions.

Children can be checked for a wide variety of disorders, such as cystic fibrosis, hypothyroidism and maple syrup urine disease.

Parents can now have their children or newborns tested using a simple mouth swab that goes with the traditional heel prick.

The sample will be sent to a lab for examination based on DNA sequencing.

Afterwards, results will be delivered to the baby’s doctor within four weeks so it can be discussed with the parents.

Genepath’s laboratory director, Dr. Ben Shum, stated that the test screens around 50 conditions that are not currently subject to genetic screening in Australia.

“We can now identify genetic conditions with DNA sequencing before any symptoms become apparent and start treatment or make the necessary lifestyle changes so that, in many cases, those conditions will never become symptomatic,” Dr. Shum said.

Krabbe disease is one of the rare genetic conditions that the NextGen test can check. It’s a degenerative neurological condition that is difficult to diagnose and can cause developmental delays in children.

In the U.S., children with this condition are screened and treated by means of bone marrow transplants.

According to clinical geneticist Dr. Mary Louise Freckmann, the earlier a bone marrow transplant can be undertaken for people with Krabbe disease, the better, but it may not always be successful.

“And I think that’s part of having good information and then the opportunity is there to discuss this with a genetic counsellor before going ahead with treatment.” she told AAP.

Although the NextGen test can be very beneficial but it costs $980 and it’s not covered by Medicare.

Dr. Freckmann said that genetic tests are expected to become more common as technology improves. Hopefully, they can be made available under Medicare at a lower cost.

At this time, the cost is not covered by Medicare.

“Most of these conditions aren’t common,” she stated. “So most of the people who do the test will be coming back with a negative result, so it’s more for reassurance.”

For more information about the NextGen test, visit

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