For certain patients, the combination of symptoms does not allow the doctor to identify a potential diagnosis. In such challenging cases, a stepwise diagnostic strategy is often chosen, making testing complex, tedious, expensive, and often not even conclusive. In addition, a late diagnosis can have a significant impact on the patient's treatment and quality of life.
For these cases, the use of WES has advantages over initially more specific genetic tests. While such targeted genetic testing focuses on a single gene or a limited set of predetermined genes, Whole Exome (WES) testing examines protein-coding regions in the genome (exons) simultaneously. It is estimated that the majority of disease-causing mutations (around 85%) are located within exons.
This lack of bias also makes it possible to identify disease-causing variants in genes that would be missed with specific approaches.
LORGEN GP's full exome sequencing service offers an accurate and cost-effective one-step solution with high diagnostic throughput.
It includes:
- Analysis of up to 4 pathologies from the list of most common pathologies.
- Genetic counseling before and after performing the test.
What is analyzed in this test?
Analysis by ultrasequencing (NGS) of the adjacent exonic and intronic regions for the detection of point variants and possible copy number variations (CNV).
Changes in the genes associated with the selected clinical phenotypes are analyzed and prioritized, as well as pathogenic and probably pathogenic changes detected in the more than 23,000 genes that could be associated with the patient's phenotype.
Possibility of combinations
The specialist or patient may direct the exome towards one or more of the
the pathologies mentioned in the list of the most common pathologies or the pathology indicated by the specialist.
In the event that you want to add more pathologies to the 4 already included in the test, each extra pathology will have an additional cost of 50 EUR. To add pathologies to this test, you must inform Enevia Health.
List of most common pathologies
- Hereditary Cancer Study (breast, colon, neurofibromatosis, paraganglioma, medullary, gastric, etc.)
- Genetic study Ataxias
- Genetic study Charcot Marie Tooh disease
- Genetic study Dementias/ALS
- Dystonia genetic study
- Genetic study Myopathies
- Genetic study Epileptic Encephalopathies/Epileptic Disorders
- Genetic study Family Spastic Paraplegia
- Genetic study of Mitochondrial Disease, includes mtDNA and nuclear genes
- Genetic study of movement disorders, CMT, Ataxias, HSP, Parkinson's, Dystonia, etc.
- Genetic study Microcephaly/Macrocephaly/Cranial malformations
- Genetic study Diabetes (Mody type included)
- Genetic study Skeletal Alterations
- Genetic study Ehlers Danlos disease and disorders of connective tissue
- Genetic study Malformations/Alterations of brain development
- Genetic study Parkinson's disease
- Genetic study neurodevelopmental delay, Intellectual Disability, Autism, Dysmorphia, Glycosylation disorders, peroxisomal alterations, lysosomal alterations, etc.
- Dysmorphic genetic study
- Genetic study cranial alterations, brain development alterations, SNV alterations, epileptic disorders, neurodevelopmental delay (DI, TEA, Dysmorphisms, etc.), metabolic alterations.
- Genetic study Cardiology, includes structural, vascular and cardiac conduction alterations
- Genetic study Lung disease
- Genetic study Ophthalmological disease
- Genetic study Female/Male Fertility/independent of sex
- Genetic study liver pathology
- Genetic study Hearing loss
- Genetic study Metabolic Disease
- Genetic study Ciliopathies
- Genetic study Immune system disease
- Hematological genetic study
- Dermatological genetic study
- Nephrological genetic study
- Genetic study Newborn sick or in the ICU (up to 24 months)
- Genetic study Inborn errors of metabolism
- Genetic study for Cerebral Palsy
- Genetic study for Arthrogryposis
- Genetic study for elevated CPK as the only symptom
- STROKE genetic study
- Genetic study for Short Stature (includes MLPA for SHOX gene)
- Genetic study for Hypertension
- Genetic study for Hypercholesterolemia
