Exome sequencing and targeted bioinformatic analysis in the patient and both parents
MediExome trio relies on the exome sequencing of the patient and of his parents. During exome sequencing, all coding regions and splice sites of the 20’000 protein coding genes are sequenced simultaneously. The produced data is analyzed in order to identify the individual variations of the patient. This rigourous analysis is performed with the help of a suite of bioinformatics programs by our experts.
The variants retained are interpreted by our team of Genetics experts, which includes clinical geneticists, molecular biologists and bioinformaticians. The clinical information provided by the physician is of the utmost importance to interpret the variants. The variants interpreted as pathogenic or likely pathogenic, i.e. considered responsible of the phenotype, are reported.
Thanks to the merging of “parents-patient” bioinformatic data, MediExome Trio allows:
Trio exome analysis is widely recognized more efficient.
This technology is applicable to all medical specialties. The diagnostic yield, .i.e. the probability of identifying a molecular cause, is in average 25-30%; it varies according to the type of disease.
MediExome Solo allows the detection of punctual variants (Single Nucleotide Variants, or SNVs), small insertions or deletions of less than 30 bp (indels) and somatic variants with a mosaicism of more than 20%. The Copy Number Variants (CNVs) can possibly be visualized if they relate to more than 3 consecutive exons. The percentage of nucleotides covered at least at 20x on the exons and splice sites of the genes of interest is in average about 99%; it varies according to the gene panel. Any variant reported is confirmed by either Sanger sequencing or another method (MLPA, array-CGH).
4-6 ml of EDTA blood, not centrifuged for the patient and each parent.
8-10 weeks after reception of the sample, the request form, the signed consent and, depending on the situation, a document issued by the insurance confirming the reimbursement.
The exome sequencing analysis is included in the OPAS List of Analysis and the reibursement is done through the patient’s insurance; the sequencing of the parents is currently not covered by the insurances. Please contact us for more information.
This analysis does not detect any expansion of repeated regions (including trinucleotides), any variant in regions with insufficient coverage, any variant in non-analyzed regions (regulatory elements, introns), any variant in genes not included in the tested gene panel or any variant present in low mosaicism. Furthermore, exome sequencing is not reliable to detect translocations, insertions, deletions and duplications of more than 15 bp, Copy Number Variants (CNVs) of whole exons, variants in genes with very homologous pseudogenes and variants in the mitochondrial genome.
Sensitivity (TP/(TP+FN)) | Specificity (TN/(TN+FP)) | |
SNV | 99.94% | >99.99% |
Indel | 96.99% | >99.99% |
% coverage at 20x | % coverage at 30x | Average coverage | |
All genes associated to a phenotype (CGD) | 99.10% | 98.88% | 137.85 |