is a robust and one of the most comprehensive genetic tests.
Whole-exome sequencing (WES) is a robust and one of the most comprehensive genetic
tests to identify the disease-causing changes in a large variety of genetic disorders.
In WES, protein-coding regions of all nuclear and mitochondrial genes (~20,000) of
the human genome, ie, exome, are sequenced using next-generation sequencing
technologies. 85% of all disease-causing mutations are located there.
The most extensive genetic test to cover whole genome GENOME detects and interprets variants based on Whole Genome Sequencing (WGS), a test technique that covers the entire human genome. WGS tests have the highest diagnostic rate among all the other genetic tests, and WGS tests have approximately 7-8% higher diagnostic rates than WES tests. You can consider GENOME in the following circumstances To examine all variants with a single test, Showing non-specific symptoms and if Undiagnosed after a WES test
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Single gene sequencing may be undertaken when a patient’s features are strongly indicative of a genetic condition caused by variants in a single gene. In this context, it may provide a quick molecular diagnosis.
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Over 220 panels covering 14 different medical specialties, Greater than 3,000 clinically.
Over 220 panels covering 14 different medical specialties, Greater than 3,000 clinically relevant genes included. Clinically relevant panels include the entire mitochondrial genome. A comprehensive analysis including both sequencing and del/dup (CNV). The ability to customize up to 200 genes from a selection of 4000 genes and the whole mitochondrial genome. The great majority of tests are completed within 28 days.
Diagnostic testing in affected family members, Predictive testing in unaffected family.
Diagnostic testing in affected family members, Predictive testing in unaffected family members. Carrier testing in the case of autosomal recessive and X-linked disorders, Segregation of variants. Prenatal carrier testing and embryos carrier testing during IVF process.
The Reproductive Screen test is intended for healthy individuals interested in carrier screening. Carrier screening gives individuals and/or couples an estimate of their chances of having a child affected with an autosomal recessive or X-linked condition.
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The Comprehensive Cancer Screen test is for healthy adults interested in learning about their genetic risk of developing cancer so they can have monitoring or preventative measures before symptoms appear.
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The Proactive Screen test is for healthy adult individuals interested in learning about their genetic risk of developing certain conditions that can be monitored or even prevented before symptoms appear. After a positive result, healthcare provider can help their patient to make informed decisions about lifestyle choices or taking preventive actions. Proactive Screen tests are for healthy adults who understand the pros and cons of proactive testing, thus these tests do not include genes that cause childhood conditions or conditions that lead to a recognizable phenotype. These tests are for personal risk assessment of healthy individuals.
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