How it works?
- Specialist WES and CES Methodology Doctor prescribes test for complex genetic disorder cases
- Blood sample is taken from each patient
- DNA analysis by NGS and Sanger Sequencing
- Mutation report is shared with the specialist
The main indication of exome sequencing is to characterize an unmapped monogenic genetic disorder present in a potential carrier.
What is Whole Exome Sequencing (WES)?
- WES test studies the alterations in the DNA sequence of 24,000 human genes, especially in the regions of genes known as Exons.
- Exons are the parts of genes that contain the main information needed to encode proteins (functional elements of cells). As a general estimate for all genes, 85% of mutations causing monogenic diseases are found in the exons
What is Clinical Exome Sequencing (CES)?
CES studies the alterations in the DNA sequence of 4,800 genes which are clinically categorized and correlated on the basis of specialist diagnosis.
Why opt for WES or CES?
To help couples and their family members 1 identify if they are carriers of genetically heterogeneous disorders
Before planning pregrancy through IVF or naturally. It helps to identify the risk of transmitting genetic disorders to the child.
In complex cases where clinical symptoms prevail for genetic mutations which needs to be identified.
The most reliable and accurate result is obtained in 45 working days after receiving the blood sample.
Positive:
The tested person carries a mutation in a particular gene. The test should also be carried out in the other family members. It is also recommended for new borns with symptoms of rare genetic disorders.
Negative:
A negative result indicates that the person doesnt carry any of the genetic mutation. We still recommend to discuss the report with your doctor for further mutation counselling.
Technology
- Both WES and CES uses Next Generation Sequencing INGS) technology to obtain the information from millions of DNA fragments. It consists of a set of molecular biology and bioinformatics analysis tools.
- An additional 6 genes such as Congenital Adrenal Hyperplasia (CAH), Fragile X, Spinal Muscular Atrophy (SMA), Hemophilia A, Duchenne Muscular Dystrophy IDMD), Spinocerebellar Ataxia (types to be determined) are performed by Sanger Sequencing to assure accuracy and consistency.
Why choose WES and CES with Igenomix?
- Igenomix is a worldwide leader with more than 14,000 exomes performed since 2015.
- Our reports are comprehensive and clinically interpreted.
- We have extensive experience in-house bioinformatics and wet lab
- Local know-how and experience managing Arabic database definition related to genetic mutations.
