Health Ministry flags error in genetic test kits detecting rare mutation

The Health Ministry says that a malfunction has been discovered in test kits used to detect a mutation in the MECR gene, which raises the risk of a severe genetic neurological disease in fetuses, according to Haaretz.

The genetic screening tests were produced by Thermo Fisher and used for pregnant women or those planning pregnancy, as well as the biological father. The MECR mutation is one of many examined in Israel’s expanded genetic screening panel. The disease is rare but more common among people of Ashkenazi Jewish origin.

The mistake stemmed from a computer error in the software that analyzes samples. The ministry then ordered all genetic laboratories using the software to reread the tests, and 109 new carriers were found, of whom only one couple were both carriers — a necessary condition for an increased risk of the disease.

The ministry has established a special review committee that will examine all the mutations the test kit is designed to detect. The review will take several weeks, and its results will be presented to the public when they are available.