Genetic testing is a test that analyzes mutated genes and disease-causing genes and determines the risk of genetic disorders. It investigates clinically unexplainable mutations associated with symptoms/syndromes/disease groups of numerous organ systems to determine the disease’s etiology.

GENE TESTING VALUE

  • Determine the etiology of the disease.
  • Optimizing medication/treatment.
  • Disease evaluation, effectively preventing complications (if any) and improving the patient’s quality of life.
  • Support family members in identifying their risk to plan appropriate screening, prevention, and treatment.

TEST PACKAGES

Test packages WGS (Whole genome sequencing)WES (+CNV) (Whole exome sequencing)G4500DiagsureMitochondria mt-DNACNVSure
Scope of the test Analysis of the whole 3 billion nucleotides of the human genome, including the exon-coding region (of approximately 22,000 genes) and the non-protein-coding region—intronsTesting for SNV point mutations in the coding region and the intron region adjacent to the two ends of the exons (10-20bp); microdeletion/micro repetition (up to 1 exon); some mutations in the intron region of 22,000 investigated genesAll identified pathogen genes (4,503 genes) as well as chromosomal aneuploidy, microdeletions and duplications over 400kp.Analyze 177 panels with 13 specialties and more than 3,000 genes.37 mtDNA genes.Chromosomal aneuploidy, microdeletions and duplications over 400kp.
Whole-genome or large genomic region sequencing is necessary for large-scale genetic disease screening.
  • Whole Genome Sequencing (WGS): Analysis of the whole 3 billion nucleotides of the human genome, including the exon-coding region (of approximately 22,000 genes) and the non-protein-coding region—introns.
  • Whole coding region sequencing (WES): Testing for SNV point mutations in the coding region and the intron region adjacent to the two ends of the exons (10–20bp); microdeletion/microrepetition (up to 1 exon); some mutations in the intron region of 22,000 investigated genes.
  • Sequencing the pathogenic gene region (G4500/CES): Detecting mutations in 4,503 human pathogenic genes associated with approximately 6000 single-gene diseases.
Testing for disease-causing or syndrome-causing gene groups to support diagnosis of13 clinical specialties, including cardiology, respiratory, gastrointestinal-hepatobiliary, hematology, anomalies, kidney, immunology, metabolism, endocrinology, neurology, ophthalmology, otorhinolaryngology, and dermatology.
Testing for 37 mtDNA genes in mitochondria (outside the cell nucleus). Mitochondrial diseases are chronic, inherited diseases that primarily affect energy-consuming organs such as the liver, kidneys, pancreas, brain, digestive system, eyes, inner ear, muscles, and blood cells.
CNVsure is a test for detecting genetic diseases caused by numerical abnormalities of 23 chromosomes and structural chromosome abnormalities (microdeletions, micro-duplications from 400 kbp in size).

ADDITIONAL HIGHLIGHT TEST OFFERED BY GENESOLUTIONS

EXPERT OPINIONS

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No one has to travel on the path to being healthy alone. Before and after a genetic test, the physician and geneticist are always available to provide accurate, responsible results; collaborating with clinical physicians to determine the optimal monitoring and intervention measures.

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