Researchers at the University of Calgary have unveiled a genetic testing kit

University of Calgary researchers have developed a quick and inexpensive way to test for genetic mutations — an accurate tool for diagnosing newborns and infants.

“The sooner you can identify pathogenic mutations, the sooner you can get patients on treatment,” said Dr. Pierre Billon, an associate professor at the University of Calgary's Cumming School of Medicine.

Dr. Billon first developed the test kit at Columbia University and continued his work at U of C.

What the team was able to design, he says, is a universal and affordable kit that can be used by doctors and scientists around the world.

“With this tool, we can get results in just a few cents a day,” added Dr. Billon.

The kit is called One-pot DTECT, and it contains “multiple enzymes and unique DNA fragments that reveal and identify genetic markers.”

It can screen for and diagnose a wide range of blood disorders, such as sickle cell anemia. Single-vessel DTECT can diagnose other genetic disorders, including cystic fibrosis, the researchers said.

“This will do wonders for speeding up genetic testing in the clinic, as well as lowering the cost of genetic testing for many different diseases,” explained Dr. Nicola Wright, a pediatric hematologist and immunologist at the Alberta Children's Hospital.

In testing the kit, Dr. Wright tested 21 people with sickle cell anemia; people who carry the mutation but do not have symptoms; or those without the mutation.

One-pot DTECT accurately identified individuals with genetic mutations and results were available the same day.

“We see anxiety in families when we get these abnormal results — it's really stressful,” Dr. Wright said.

“If we can tell the family sooner … that's a huge advantage over what we're doing now,” he added.

More details about the one-pot DTECT kit and its assays were published in Cell Reports Methods at the end of January.