ORION (Whole Exome Sequencing) Test

 Orion Whole Exome Sequencing, also called as WES, is a thorough genetic test done to find differences in the exons, the parts of genes that code for proteins. Although making up only 1% to 2% of the human genome, these areas are home to over 85% of all known mutations linked to disease. Doctors prefer this technique to find differences in the protein-coding region of any gene. Whole exome sequencing can be employed more successfully than whole genome sequencing because most known disease-causing mutations reside in exons. For patients with suspected genetic disorders, developmental delays, or unexplained medical complaints, ORION (WES) is an essential diagnostic tool.

Doctors use advanced next-generation sequencing (NGS) technology to take the test and to analyze hundreds of genes at once to find known and unknown variations. The result of the test offers complete insights into the disease and assists in getting the right diagnosis and treatment.

Why is the Whole Exome Sequencing Test Prescribed?

The Whole Exome Sequencing test is prescribed to patients who are facing symptoms that do not allow exact diagnosis of a suspected genetic disease. It is for individuals facing-

• Genetic Disease: Patients showing clinical symptoms that do not correspond with a particular diagnosis may undergo the test.

• Intellectual difficulties: The test result assists in identifying the hereditary cause of neurological or developmental disorders.

• Facing Rare Inherited Disease: Single-gene mutations that cause uncommon disorders that could otherwise go undiagnosed are detected by rare inherited diseases.

• Genetic condition family history: Assesses hereditary risk and offers family planning advice.

Besides, variants inherited from the parents, causing dominant or recessive diseases, to be detected with the test. Furthermore, the test also helps to identify Trio Analysis de novo variations that arise in the child but are absent from both parents.

Components of Orion Whole-Exome Sequencing

The Orion Whole Exome Sequencing examines the complete set of exons, and the analysis includes-

• DNA Extraction and Sequencing: First, DNA is extracted from a sample of blood or saliva. Millions of DNA fragments are read concurrently using sophisticated sequencing equipment.

• Data analysis: To find mutations such as single nucleotide variants (SNVs), minor insertions, deletions, and copy number variations (CNVs), advanced bioinformatics techniques align the sequences to a reference genome.

• Variant Interpretation: To ascertain whether detected variants are linked to illnesses or conditions, they are checked with clinical databases.

Preparation and Perquisites

There is no special preparation required to undergo the test. The clinician would extract blood from the patient for the test. Any medical history should be discussed with the patient.