What is GenoXome?
The protein-coding parts of DNA are called exons, and the combination of all exons is called exome. The exome, which makes up 1% to 2% of the human genome, contains about 85% of the mutations that have been proven to cause disease.
GenoXome is Genoks GDHM's patented Exon test brand.
With the Whole Exome Sequencing Test, approximately 20,000 genes are analyzed and results are given in a short time. Genoks Genetic Diseases Evaluation Center's patented WES brand, GenoXome, scans an average of 180,000 exons of approximately 20,000 genes in the diagnosis and evaluation of genetically transmitted diseases.
In the presence of a rare genetic disease, GenoXome is recommended to confirm the current clinical diagnosis of the patient or to find the candidate gene that causes this disease in families whose children have a genetic disease.
- Those with a history of disease that could not be diagnosed with standard clinical tests,
- Cases that did not get results with the first step tests,
- Diagnosis of genetically and phenotypically heterogeneous group disorders (If multiple genes cause the same disease
- or if the same phenotypic findings are observed in many diseases),
- Families who have a sick child and are planning a new pregnancy,
- Families with no clinical signs but with a history of life-threatening congenital anomalies
- The GenoXome test should be recommended to people with a family history of genetic diseases and the following heterogeneous phenotypes.
- Cognitive disability
- Retinitis pigmentosa
- Neurodevelopmental retardation
- Skeletal dysplasia
- Metabolic disorders
- Muscular dystrophy
- Short stature
- Hearing loss
- Dysmorphic syndromes
- Diseases in differential diagnosis with more than one condition