GENOMIC TESTS: WHOLE GENOME SEQUENCING (WGS)

First performed in Romania by Cytogenomic Medical Laboratory

WHOLE EXOME SEQUENCING (WES) is a state-of-the-art genetic analysis method worldwide. It combines molecular genetics with dedicated bioinformatic algorithms to analyze over 19,000 genes that make up the human exome—the coding portion of the genome that ensures the correct synthesis of proteins in our body.

Proteins are essential components of our body, participating in maintaining the structure of cells and organs and performing the biochemical reactions—metabolic, immune, etc.—necessary for the body to function.

Mutations in these genes lead to the production of abnormal proteins, which account for approximately 85% of all known genetic diseases.

More Than 5,000 Diseases
Over 19,000 Genes
A Single Test

WHAT IS WES USEFUL FOR?

Through a single test, we can detect causative changes in diseases such as:

Metabolic Disorders (Diabetes Mellitus, Hypercholesterolemia, phenylketonuria, etc.)
Cardiovascular Disorders (Essential Hypertension, Arrhythmias, etc.)
Neuropsychiatric Disorders (Neuropathies, Autism, Intellectual Disability, Epilepsy, etc.)
Neuromuscular Disorders (Muscular Dystrophies, etc.)
Skeletal and Bone Disorders (Skeletal Anomalies, Paget’s Disease, etc.)
Ophthalmological Disorders (Retinopathies, Corneal Dystrophies, etc.)
Dermatological Disorders (Ichthyosis, etc.)
Oncological Disorders (Hereditary Cancer Predisposition, etc.)
…Other Genetic Syndromes

WHO SHOULD PERFORM THIS TEST?

WES is specifically recommended for patients who have undergone extensive genetic testing but still do not have a diagnosis, as well as for those suspected of having a disease with a complex clinical presentation.

WES is critically important in prenatal diagnosis when ultrasound scans identify major malformations or multi-malformative syndromes.

The essential condition for a correct interpretation of the results is the existence of a correct and complete clinical description available to the laboratory.