WES Services

The signs and symptoms of genetic diseases can have certain complications, so that in many cases, the definitive diagnosis of rare genetic diseases is difficult. Today, with the advancement of technology and the use of new methods known as ultra-precision medicine, effective steps can be taken in more targeted medical decisions and thus reducing the probability of future children of the family suffering from genetic diseases.
Therefore, by using the knowledge and experience of a specialized team, we produced and developed Whole Exome Sequencing (WES). WES is a diagnostic test that identifies pathogenic mutations in exons by sequencing the patient's entire exons and analyzing the statistical results based on artificial intelligence and finally by using precise genetic analysis

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WESAffected

The referring person is referred for the exomin test when he has clinical symptoms suspected of genetic disorders. After obtaining the comprehensive DNA information of the referring person, bioinformatics, artificial intelligence and medical genetics experts will finally identify the desired change by carefully analyzing this information and according to the inheritance pattern of the possible genetic disease. The accurate identification of the genetic changes that cause the disease (single nucleotide changes, deletions and additions) of the referring person makes it possible to ensure whether the fetus is healthy or sick by examining these changes in subsequent pregnancies, and also to provide the best possible prevention and treatment options to the patients. presented

WESAnalysis

If the result of the WES test is negative in the examined person or in order to confirm the results of other centers, it is possible to re-analyze the raw data by the specialized team of bioinformatics and medical genetics of Gene Campus. It is also possible to calculate the coverage of the genes considered by the doctor and the number of nucleotides with zero coverage in the sample so that, if necessary, additional tests can be used in negative samples to identify the cause of the disease. Fortunately, the Gene campus collection has so far succeeded in identifying the disease agent in several negative samples sent from other centers using the exoanalysis test.

WESMito

Mitochondria are known as the energy production factory of body cells. There are thousands of mitochondria in each cell of our body. Dysfunction of mitochondria due to mutation in the mitochondrial genome or some nuclear genes leads to the development of mitochondrial diseases, whose main symptoms are usually in body parts such as the brain, heart, muscles, liver, kidney, eyes and ears. appears. In the PioneerGenomics, in addition to the analysis of nuclear genes involved in mitochondrial diseases, which is done in the WES test, we offer mitochondrial genome sequencing and data analysis under the name WESMito test. Fortunately, this test has so far succeeded in identifying the cause of the disease in many samples suspected of mitochondrial diseases.

WESScreen

Healthy people with no history of genetic disease who decide to get married can do an exoscreen test to ensure that they do not pass on pathogenic mutations with a recessive inheritance pattern to their children. In this test, couples are checked for mutations that cause diseases affecting the quality of life and life-threatening. Exoscreen helps couples in consanguineous or even non-consanguineous marriages to prevent the birth of a baby with genetic defects. Considering the high rate of consanguineous marriages in the Iranian population in the past generations, as well as the higher prevalence of some genetic disorders, unrelated people may also contain the same mutations, which carries the risk of being passed on to the next generation and giving birth to a child with a genetic disorder. By performing an exoscreen test, couples can plan their future options for having a healthy child by knowing their genetic content.

WESCarrier

The purpose of this test is to find pathogenic genetic factors in healthy couples who have a history of genetic diseases in their family members. Sometimes couples who have a history of genetic disease in one or more family members plan to conceive. They are worried that their child might also get a genetic disease. Therefore, by finding possible genetic factors in the genes of the parents, in addition to identifying the cause of the disease in the affected person in the family, this test can prevent their children from contracting a significant part of known genetic diseases by performing tests during and before pregnancy. Also, genetic screening of parents before pregnancy can help reduce the effect of a possible genetic disorder through early diagnosis and treatment.

PioneerGenomic