Test for the most prevalent microdeletion syndromes

Currently, there are about 20 microdeletion syndrome tests on the market, and these test for the 20 most prevalent microdeletion syndromes in the human population.

Sometimes mutations do not involve microdeletion but another type of chromosome disposition, such as inversion or ectopia. Some inversion is normal and will not negatively affect the fetus. Moreover, in most cases, balanced ectopia is inherited from one of the parents, and also does not cause harm to the baby. Therefore, these results are not reported for the NIPS test.