The human genome consists of coding regions (contains the information for protein synthesis), called exons. These regions account for approximately 1-2% of the human genome, but it contains information on all the genes that make up the human genome—approximately 20,000 genes.
The whole exome sequencing (WES) It is a technique that allows for the analysis of only these coding regions. This analysis can identify mutations (genetic alterations) that cause diseases.
Applications:
Diagnosis of diseases of genetic origin.
Identification of disease-associated mutations.
Prognosis of a disease
- Identification of the risk of hereditary diseases, such as cancer
Near the 85% of human genetic diseases or conditions are caused by changes in the sequence of the DNA, i.e., due to mutations located in the exons.
These mutations often cause syndromes, a set of metabolic characteristics that in some way affect the correct performance of our body.
Exome sequencing allows us to pinpoint exactly which genetic alterations are present, thereby facilitating the most appropriate diagnosis and treatment.
The complete sequencing of the EXOMA can be used to identify the molecular basis of the disorder in an affected individual. This test is different from other types of genetic diagnostic tests in terms of the number of genes that are sequenced simultaneously, it provides a higher diagnostic rate than 32% by detecting single nucleotide variants (SNPs), deletions and small duplications (CNVs).
There are many complex clinical situations and multiple diagnostic options, it is complicated to know which is the most appropriate study. That is why we offer you an appointment for advice on your clinical picture and the diagnostic options we have. NO COST
Whole Clinical Exome Sequencing
- Sequencing of ~20,000 genes
- Technique: NGS by Illumina NovaSeq 6000.
Whole Clinical Exome Sequencing + CNVs + mtDNA
- CNVs: Sequencing of ~20,000 genes.
- Includes CNV analysis + mitochondrial genome analysis.
- Technique: NGS by Illumina NovaSeq 6000.
Clinical Exome Sequencing
- Sequencing of ~5,000 clinically relevant genes
- Technique: NGS by Illumina NovaSeq 6000.
Whole Clinical Exome Sequencing + CNVs + mtDNA TRIO
- Sequencing of approximately 20,000 genes.
- Includes CNV analysis + mitochondrial genome analysis
- Technique: NGS by Illumina NovaSeq 6000.
Clinical Exome Sequencing
- Sequencing of approximately 20,000 genes.
- Includes ADNLIFE + ADNfarma
- Technique: NGS by Illumina NovaSeq 6000.
mtDNA sequencing
- Mitochondrial gene sequencing at 500x depth.
- Technique: NGS using the Illumina NovaSeq 6000
- The fundamental advantage of complete EXOMA sequencing is to be able to obtain the sequence of all functional genes at a much lower cost than one by one.
- Solves complex diagnostic cases.
- The broad genetic spectrum covered: superior diagnostics compared to conventional methods of other genetic tests, such as single gene analysis or frequent mutation panels.
- It is only necessary to undergo the study once in a lifetime. Our genetic information remains in the same state over time, so the information you get now, will be almost identical in a few years. This allows a periodic review in case of new related scientific evidence, at no additional cost.