By using sequence information to design PCR primers and probes, many tests have been developed to screen patients for these clinically important mutations.

通过采用这些检查，如果父母都是突变基因杂合子，他们可被告知未出生的孩子是否会患有如肌营养不良或囊性纤维化之类的疾病，进而可以考虑是否终止妊娠。