Genetic testing for HEX A gene mutations and sequencing of the HEX A gene are used for diagnosis and heterozygous carrier detection.

HEX-A突变基因检测或HEX-A基因测序等可用于诊断该病或发现杂合携带者。

In fact, even heterozygous mutations which lead to fewer co-receptors on the cells, can make it harder for the virus to spread, and results in a slower disease progression.

事实上，即使是助受数量杂合变异，也会阻碍病毒传播，缓疾病进程。

It's autosomal dominant, which means that even if there's a normal copy of the gene, a single mutated copy of the gene – in other words a heterozygous mutation - is sufficient to cause the disease.

这是一种常染色显性遗传病，这意味着即使有一个正常基因，只要染色上有一个突变基因，即杂合突变，就足以病。

Using these tests, parents who are both heterozygous for a mutation can now be advised whether an unborn child is going to suffer from a genetic disorder such as muscular dystrophy or cystic fibrosis and can consider termination.

基因突变检测可以进一步证实基于临床表现所做出诊断。