A huge amount of data: About 85% of human disease-causing mutations fall within the coding regions (exome) or in proximity of the exon/intron boundaries. However, a minority of mutations fall outside those areas, i.e. deeply in the intronic regions of the genes or far from the transcipts, so they cannot be detected even by whole exome sequencing. Here it comes whole genome sequencing (GENOME FULL or GENOME PANEL). Whole genome sequencing consists in the sequencing of the entire human DNA. As such, it includes all the regions covered by standard whole exome sequencing plus all intergenic and deep intronic sequences as well, which overall represent as much as the 98% of the entire DNA. Breda Genetics has undertaken the challenge of human whole genome sequencing since its very beginning in 2015 and has so far sequenced several samples for different patients and medical centres worldwide.
A top solution: Whole genome sequencing (GENOME FULL) has been thus far a very expensive technique. Thanks to surprisingly fast progresses in sequencing techniques, while still remaining a high-end solution in genetic testing, GENOME FULL is now more accessible than before. Breda Genetics has therefore decided to revamp its GENOME FULL offer, with new prices and TATs.
Expertise: Our extraordinary analysis protocol is based on exquisite sequencing on the latest Illumina platforms at certified providers, a robust WGS-targeted bioinformatic pipeline and a pluriannual know-how in genetic data interpretation.
For panels or full data: Whole genome sequencing may be used both for full data analysis in polysyndromic patients without a confirmed diagnosis (GENOME FULL) or for panel testing in better defined clinical conditions (GENOME PANEL). Notably, whole genome sequencing not only aids in the identification of deep intronic mutationts, but it's perfect in overcoming certain issues such as pseudogenes (e.g. in PKD1 and PKD2 testing).
Discover all the exciting add-ons of GENOME FULL and GENOME PANEL, from carrier screening to priority TAT (additional charge):
Priority TAT: upon request, GENOME FULL and GENOME PANEL may be delivered with a faster TAT of 4-6 weeks.
Carrier screening: whole genome sequencing gives the unique chance to any individual to know their healthy carrier status for autosomal recessive and X-linked recessive conditions, which may increase their reproductive risk for certain diseases. With GENOME FULL and GENOME PANEL it is possible to discover such status, both at 1st level (mutations known in the literature) and at 2nd level (new mutations with a predicted disruptive effect).
Algorithmic CNV analysis: even when doing whole genome sequencing, not all mutations can be seen. Mutations which are larger than a point substitution or a small indel require other molecular techinques to be identified, such as for instance MLPA or array-CGH. Nowadays, such mutations can also be detected by re-running sequencing data with specific bioinformatics protocols for those mutations (which are also called Copy Number Variations - CNV). At Breda Genetics we are expert of algorithmic CNV analysis based on sequencing data, and we have already processed several samples with this techinque, which can be applied both in whole genome and whole exome sequencing.
Trio option: process your whole genome sequencing not only for the index patient, but also for the parents, to speed up the identification of de novo mutations.
Re-analysis: samples with negative results may be reprocessed in 12-24 months (recommended: 24 months) against the most recent and updated version of the databases at a reduced fee. Whole genome and whole exome re-analysis is reportedly increasing the diagnostic success rate of 2-5%.
Data storage: upon request, patient's raw data may be stored for longer periods to ease future re-analysis. Whole genome data are forever, so they may be useful for several years in the future.