A fault was found in the genetic tests that are supposed to detect Tay-Sachs disease

According to the ministry’s announcement, the malfunction is related to mutations unique to the Druze population in the Julis and Abu Sanan settlements. Since these are unique mutations, the event is limited to a certain population and does not concern the rest of the public that is tested with similar tests. The office emphasizes that at this stage, examinees who have performed the test will not be required to perform it again.

Tay-Sachs disease is a severe hereditary neurological disease caused by a defect in the gene responsible for breaking down fatty substances in the nervous system. Babies suffering from the disease develop progressive brain damage already in the first months of their lives, with loss of motor and cognitive abilities, and it leads in most cases to death at a young age. The disease is known mainly in certain populations, but there are also unique mutations in different ethnic groups.

Hermansky-Podlock disease is a rare genetic syndrome characterized by partial albinism, blood disorders and sometimes lung damage or inflammatory bowel disease. It is a complex disease, which in some cases can cause significant complications throughout life. Here, too, early carrier detection enables tailored genetic counseling.

The Ministry of Health stated that they are working with the genetic laboratories that perform the tests in order to clarify the malfunction. It was also reported that the public will be informed as necessary.

The current event is not the first in the last year where faults have been discovered in Gamidor’s genetic test kits. In January 2026, he was informed about a malfunction in the clinical genetic test kit for hereditary Mediterranean fever. This is a relatively common inflammatory disease in Israel, especially among populations of Mediterranean origin.

The diagnosis is primarily based on the clinical picture, which includes repeated bouts of fever and abdominal or chest pain, but the genetic test helps to confirm the diagnosis and guide colchicine treatment to prevent complications such as amyloidosis and kidney damage. Although the treatment decision is not based solely on the genetic test, failure to identify may delay diagnosis in borderline cases.

Even earlier, during 2025, faults were revealed in expanded screening tests for couples before pregnancy. In one of the cases, a failure to identify a rare mutation that causes Duchenne muscular dystrophy was reported. Later, another failure was discovered in software decoding, which led to missing carriers for several other rare mutations. In these cases, the Ministry of Health ordered a re-examination of the existing data, without the need for new blood samples.

In October 2025, a malfunction was also revealed in the tests to detect carriers of mutations in the BRCA genes that increase the risk of breast and ovarian cancer. The problem was discovered after a woman who received a negative answer became ill with cancer, and was found to be a carrier in a repeat test. Following the incident, the use of the relevant kits was frozen until an investigation is completed.

The multitude of events led the Ministry of Health to establish a dedicated team of experts to examine all of the company’s genetic screening tests. The goal of the team is to ensure compliance with the standards, control over decoding processes and check compatibility between the laboratory software and the updated lists of genes and mutations.