Whole Exon Sequencing (WES)
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Diagnosing of genetically and phenotypically heterogeneous group of disorders
3. Testing patients with an atypical phenotype
4. Diagnosis of patients with genetic disorders for which diagnostic panels are not available
5. Genetic counseling
Whole exome sequencing (WES) includes the sequencing of the protein-coding regions and their flanking intronic regions in ~20,000 genes of the human genome. The coding region represents 1-2% of the human genome but contains approximately 85% of disease-causing mutations. WES is performed on the HiSeq sequencer, Illumina Inc with the following characteristics: 70-100x average coverage, 214,405 target exons.
Trio exome sequencing of family members, usually affected child with parents is highly recommended for faster and more precise identifying of disease-causing mutation and determining the pattern of inheritance. In addition to patient’s phenotype/disease-associated variants, incidental findings are reported according to ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Exome sequencing can be an efficient tool for clinicians to confirm patients’ diagnosis of complicated conditions not covered by conventional testing approaches.
WGS determines the complete DNA sequence of an individual’s genome, including chromosomal DNA and mitochondrial DNA.
WGS covers the sequencing of the entire coding and non-coding regions of the genome. WGS enables the detection of non-coding sequence variants that could be informative in diagnosing genetically and phenotypically heterogeneous or undiagnosed diseases. WGS can reveal the full range of variations, including single nucleotide variations, copy number variations, changes in transposable elements, and structural variations.
Phenotype/diagnosis associated likely pathogenic and pathogenic variants are confirmed by Sanger sequencing.
Trio exome or genome sequencing of family members (usually affected child with parents) is highly recommended for faster and more precise identifying of disease-causing mutations and determining the inheritance pattern. In addition to the patient’s phenotype/disease-associated variants, incidental findings are reported according to ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
The secret to living healthier, longer, and more athletic is on the Genetic Passport's Wellness test panel.! What is in our Genetic Passport Wellness test panel based on molecular DNA analysis of 68 gene regions?
1) Immune System
2) Atrial fibrillation (AF)
3) Coronary artery disease (CAD)
4) Intracranial aneurysm (IA)
5) Peripheral arterial disease (PAD)
6) Venous thromboembolism (VTE)
8) Type 1 diabetes
9) Type 2 diabetes
11) Folate Metabolism
12) Gluten Intolerance
13) Lactose Intolerance
14) Sugar Consumption
17) Rheumatoid arthritis
18) Primary open-angle glaucoma (POAG)
19) Exfoliating glaucoma
20) Age-related macula degeneration (AMD)
21) Vitamine B12
22) Vitamine B6
23) Vitamine D
24) Sports Performance
●Determining the most common 24 genetic disease risks in the world in numerical rates.
●Comparing personal risks with population risks numerically.
●Separate disclosure of the measures required to reduce the genetic and environmental risk rates for each disease.
●Explanation of the trigger factors one by one according to the risk rate for each disease.
●Descriptive information of all environmental factors necessary to minimize or even eliminate risks by risk rate for each disease.
●Nutritional and exercise recommendations for each disease.
●Emergency response warning against high-risk rates.
●Assessing the possibility of increased risk after the interaction of other genetic regions despite the low risk of disease.
●Assessing the possibility of decreasing the risk after the interaction of other genetic regions despite the high risk of disease.