In some families, a disease is seen in the form of reproducibility. In these families, after identifying the mutation in the affected person using new generation techniques of genetic sequencing (NGS) and confirming the mutation using the Sanger Sequencing technique in the affected person, genetic examination is necessary to determine and confirm the condition. Transmission of parents and in some cases in other healthy or symptomatic members of the family. This investigation in parents or other family members is known as segregation analysis and is done using the trench technique.
Before doing this test, a detailed consultation by a medical geneticist is necessary.