The conclusion about the diagnosis depends on what you found. First, you need to verify the result. It is possible to do this by the method of sequencing by Sanger, one can use the PCR-RFLP method. Secondly, you need to see if there is a change in the parents, in the third, look at the database of data, whether this change is known as a pathogenic mutation. Then, if it is a mutation to analyze how it is inherited: dominant or recessive. If it does not exist in the databases, then, by forecasting programs, see that it is broken. And only after that draw conclusions. Sorry for my bad english.

Hi

Present status of NGS in clinical diagnosis is that it is gaining momentum. The technology is getting better and better. But when it comes to human health nothing can be taken for granted which is why we verify it with more samples and more tests. Nevertheless, companies are using NGS and even hospitals have started having their own NGS machines

Fully working, especially with custom, mono/poly disease, panels of a few genes to be sequenced for snps and short indels detection.