The stages of an hereditary diagnosis of angio-edema edema (HAE)

Genetic test: become more reliable

Most HAE cases are caused by a genetic mutation that affects the Serping1 gene or the F12 gene. However, genetic tests are not a simple process for this disease.

Although there were genetic tests to identify these anomalies, they often took time, expensive and inaccurate. In addition, like other unprecedented genes can play a role, a negative result may not completely exclude Hae.

For these reasons, doctors generally recommend a diagnostic blood test to measure the levels of the Estérase C1 and C4 protein inhibitor in the bloodstream instead of genetic tests. (5)

However, in 2018, researchers discovered that a very sensitive genetic test was better than traditional genetic tests to diagnose HAE type 1 and type 2.

The new test exceeds the entire Serping1 gene and is now recommended as the first line or confirmation method of genetic tests for patients. Scientists report that he has an accuracy rate of 99.35%. (5) Although initially expensive, this test has become more affordable over time.

Some doctors may recommend genetic tests in children under a year because they can get false results on standard blood tests. (3)

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