GENOMIC TESTING: CODING GENOME SEQUENCING
Over 5.000 disorders.
More than 19.000 genes.
One single test.
What is WES useful for?
One single test helps us detect changes causing various types of disorders:
• 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
BENEFITS OF DOING WES AT CYTOGENOMIC MEDICAL LABORATORY
It is performed entirely within CytoGenomic Medical Laboratory
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.
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
It offers valuable information regarding recurrence risk, risk of other family members of being affected and possible reproductive options.