GENETIC TESTING

Genetic testing is a type of medical test that identifies changes in the DNA sequence, which we can pass on to our children. These changes in our DNA, called “pathogenic variants,” can manifest in disease. Genetic tests can detect such variants and confirm a disease diagnosis.

DNA is the genetic material in our cells that serves as the blueprint for our unique features. It carries the instructions that enable our body to perform various functions. Several different methods exist to quickly and reliably test our DNA; sequencing and deletion/duplication analysis are the most common.

Genetic approaches like Genome Testing (WGS) = Whole Genome Sequencing and Exome Testing (WES) = Whole Exome Sequencing, capture extensive ranges of genetic variants in a single test.

What Is a Genome?

A genome represents a patient’s complete set of DNA. By examining the genome, you can capture one of the most extensive ranges of genetic variants in a single test – solving up to 30% of negative cases that just look at the exome. This first-line test combines Polymerase Chain Reaction (PCR)-free technology powered by a CE-IVD bioinformatics pipeline.

What Is an Exome?

The complete genomic information within a sample or individual is known as the whole genome. The exome is a region of the genome – making up approximately 2%. The exome is responsible for protein-coding regions, and although it is a relatively small part of the genome, it contains the majority (~85%) of known disease-causing changes.

Genetic testing should be considered when:

• You have a family history of a genetic condition
• You might have an increased risk of developing a genetic condition
• You develop signs or symptoms of a genetic condition
• You might pass on the genetic condition to your children
• You are pregnant and have reason to believe that your baby is at risk of having a disease-causing mutation

An accurate and rapid genetic diagnosis can prevent a long journey of countless unnecessary medical tests. It is of merit to engaged renowned medical experts and scientific techniques that ensure that genetic test results are comprehensively analyzed and translated into a report that will help physicians guide medical care.

At Goanic we offer patients and clients the most advanced testing technology specifically designed to confirm or exclude a diagnosis of almost any known genetic disorder.