GENOMIC TESTING: CODING GENOME SEQUENCING
Performed for the first time in Romania by CytoGenomic Laboratory
THE WHOLE EXOM SEQUENCING (WES) is a worldwide state-of-the-art genetic analysis technique, combining molecular genetics with bioinformatics and capable of analyzing in one run the over 19,000 genes in the human exome (the coding part of the genome which ensures the proper synthesis of the proteins in our body).
Proteins are essential components of our body, that help preserve the cell and organ structure, and that perform the biochemical – metabolic, immune, etc. reactions needed for the body to function properly.
The changes in these genes create abnormal proteins, producing around 85% of the known genetic disorders.
Over 5.000 disorders.
More than 19.000 genes.
One single test.
What is WES useful for?
Who should have this test done?
One single test helps us detect changes causing various types of disorders:
• metabolic (diabetes mellitus, hypercholesterolemia, phenylketonuria, etc.)
• neuropsychiatric (neuropathies, autism, intelectual disability, epilepsy, etc.)
• neuromuscular (muscular dystrophies,miopathies etc.)
• skeletal (skeletal dysplasias, Paget disease, etc.)
• ophthalmologic (retinopathies, retinal dystrophies, cataract, etc.)
• dermatological (ichthyosis, keratodermias, epidermolysis bullosa, etc.)
• cardiovascular (congenital malformations, arrhythmias, vasculopathies, etc.)
• oncological (cancer predisposition syndromes, hereditary cancer, etc.)
• other genetic syndromes
• neuropsychiatric (neuropathies, autism, intelectual disability, epilepsy, etc.)
• neuromuscular (muscular dystrophies,miopathies etc.)
• skeletal (skeletal dysplasias, Paget disease, etc.)
• ophthalmologic (retinopathies, retinal dystrophies, cataract, etc.)
• dermatological (ichthyosis, keratodermias, epidermolysis bullosa, etc.)
• cardiovascular (congenital malformations, arrhythmias, vasculopathies, etc.)
• oncological (cancer predisposition syndromes, hereditary cancer, etc.)
• other genetic syndromes
WES is especially recommended to patients who have undergone extensive genetic testing, but do not have a diagnosis yet, and to those who have a disorder with a complex clinical picture.
WES is alsorecommended for prenatal diagnosis in cases of ultrasound findings. Please contact a medical geneticist for more information.
The basic requirement for an accurate interpretation of the results is to provide the laboratory with an accurate and complete clinical description.
BENEFITS OF DOING WES AT CYTOGENOMIC MEDICAL LABORATORY
1
It is performed entirely within CytoGenomic Medical Laboratory
2
Genetic counselling is provided both before and after testing. Thus, before testing, you understand what the test does and what type of result you can obtain from the test and after testing, the result will be explained to you.
3
It can provide a clear genetic diagnosis and information regarding the evolution, prognosis and most suitable treatments for the disorder, saving you time and money
4
It offers valuable information regarding recurrence risk, risk of other family members of being affected and possible reproductive options.
