Is Whole Exome Sequencing right for me?

Viafet's Whole Exome Sequencing is the most efficient test to identify the genetic cause of disease or disabilities in your family in the following circumstances:

• Based on the affected individual's medical assessment, the condition is believed to be syndromic, caused by more than one disease, and the set of genes causing the syndrome is unknown.
• Based on the affected individual's medical assessment, the condition is believed to be polygenic caused by the interaction of two or more genes, and requires the screening of multiple genes.
• Following medical assessment, many different diseases have been diagnosed, making Whole Exome Sequencing more cost and time efficient than other testing methods.
• There is an unusual presentation of a disease, leaving doubt about a previous diagnosis and requiring further genetic testing.
• The affected individual's shows characteristics that have not been previously documented medically.

If you believe that you and your family would benefit from Whole Exome Sequencing, Viafet's team of Genetic Counsellors are available to talk through your medical history and help you in determining if Genextract™ is the right test for you. With locations in the United Arab Emirates (Dubai and Abu Dhabi), Australia, the Kingdom of Saudi Arabia, Lebanon and more locations coming soon, Viafet's services are available to a wide network of clinicians and patients. For more information on Genextract™, to discuss any questions related to genetic testing, or to learn how you may complete Whole Exome Sequencing, contact Viafet today.

How does Whole Exome Sequencing work?

The Exome

The exome refers to the portions of DNA that direct the body to make proteins that are essential for healthy growth and development. The exome is made up of approximately 180,000 exons, arranged into approximately 22,000 genes and represents about 3% of the entire DNA set. Changes in the DNA sequence of the exome is one of the major causes of genetic diseases. These variations can also be passed on from one generation to another.

Whole Exome Sequencing

Whole Exome Sequencing is a newly developed test performed through Next Generation Sequencing that enables multiple genes and larger areas of genes to be tested simultaneously and efficiently. Viafet's Whole Exome Sequencing will sequence, exon by exon, the exome to the depth of coverage required to discover the genetic cause of the disease affecting your family with high accuracy.

The identification of a gene mutation(s) allow for further steps to be taken to prevent the passing on of the condition to future generations and may aid the improvement of treatment of an affected individual. After identifying the cause of the genetic disease through Whole Exome Sequencing, couples may choose to complete an IVF cycle with the Preimplantation Genetic Diagnosis (PGD) for Single Gene Disorder . This is a genetic test that allows embryos to be screened for the genetic disease affecting a family, before pregnancy. Whole Exome Sequencing is most effective when detailed medical records and family members are available for testing, particularly parents of the affected individual.

What makes Viafet's Whole Exome Sequencing different?

A number of variables determine a laboratory's success in being able to identify the genetic mutation(s) causing a disease in your family. These factors include:

1. CAP Accreditation: Viafet has been awarded accreditation by the Accreditation Committee of the College of American Pathologist (CAP). This achievement makes Viafet the first and only lab in the Middle East CAP accredited for Next Generation Sequencing Technologies.
2. Technical skill and clinical expertise: Viafet's team has reported over 240 clinically oriented publications and discovered 11 previously unclassified genetic diseases.
3. Sensitivity of the platform and technique: Viafet's Whole Exome Sequencing is completed using medium and high throughput Next Generation Sequencing by illumina®. 37 Mb of exonic content (>214,000 exons), more than 98% of the coding region, is captured. >90% of the bases are covered at 20x.
4. Genetic counseling services: Each family will receive genetic counseling from a specialized medical geneticist as part of Viafet's Whole Exome Sequencing.
5. Analysis methodology: Analysis is completed through the use of comprehensive panels, inclusive of every condition recorded worldwide, and guided by the diagnosis of the specialized medical geneticist.
6. Turn-around-time: Viafet knows that the information sought through Whole Exome Sequencing is of pivotal importance to you and your family. For that reason, Viafet has invested in reduced reporting times. Currently, Viafet's reporting time is substantially faster than that of other laboratories, with reports being released within 6 weeks.

What will my Whole Exome Sequencing report include?

A report will be issued summarizing the results of an individual based on American College of Medical Genetics and Genomics ( ACMG ) guidelines. Variants that are classified as Pathogenic, Likely Pathogenic, or a Variant of Uncertain Significance will be reported; however, those that are known to be Benign or Likely Benign will be excluded. Your report will entail:

1. Findings related to the condition: Viafet will report the presence of any variation that is believed to be related to the disorder being tested. This includes mutations that have already been reported to lead to the condition and/or variants in genes that are expected to cause disease.
2. Findings from Carrier Screening: As part of our mission to protect future generation from inherited diseases, all patients will receive Vafiet's Carrier Screening to screen for the most common recessive genetic conditions. Carrier status of a variant does not mean that you will develop the condition, but you are at a 50% chance of passing it on to future offspring. You may opt out of this service and these variants will not be included in the report.
3. Findings from ACMG recommended Genes: ACMG recommends the screening of patients for variants present in 59 genes related to adult-onset cardiovascular diseases, metabolic conditions, and cancer. This is not mandatory, and you can as well opt out of the reporting of these findings.
4. Recommendations: Based on your results, recommendations and further genetic testing suggestions will be provided to better understand and explain your genetic findings.

Where can I get testing?

Talk to your physician about Whole Exome Sequencing and if it right for you. If your physician does not yet offer Viafet testing, please suggest that they contact us - testing can get started immediately. If your physician is already offering Viafet testing, all coordination for your case will be completed between your medical centre and Viafet's team.

With locations in the United Arab Emirates (Dubai and Abu Dhabi), Australia, the Kingdom of Saudi Arabia, Lebanon and more locations coming soon, Viafet's services are available to a wide network of clinicians and patients. If at any time during your journey you have questions or would like to speak with a Genetic Counselor, contact Viafet and we will schedule an appointment immediately.