The perfect option for de novo and rare recessive mutations detection
There are cases where whole exome sequencing is indicated not only for the patient, but also for the parents (trio testing). This is the case, for example, when a de novo mutation is considered likely, but also when two very rare novel alterations in the same gene are suspected. EXOME 33MB TRIO is performed on Illumina or Life Technology platforms and includes the sequencing of all 20,000+ human genes.
Additional indications and technical specifications
The analysis of multiple family members may not only involve patient and parents. In some pedigrees, testing at distance family members may make sense. Whenever an autosomal dominant disorder affects several relatives, doing whole exome sequencing in more than one is a good testing strategy. To reduce the number of shared benign variants and identify the causative mutation more easily, the more distant the tested individuals are the better is. EXOME 33MB is a perfect fit for this cases.
EXOME 33MB is a whole exome sequencing solution with optimized targeting to include coding regions and exon/intron boundaries only. For faster variant filtering and cost-effectiveness sequencing in more than one individual, UTRs are excluded from the enrichment process in favor of higher levels of coverage on the exonic content. At least 5 intronic base pairs are read at each exon/intron boundary. Both clinically known and unknown genes are included for a total of 20,000+ genes.
Accepted samples includes: already purified DNA (better if eluted in water), EDTA-blood, Breda Genetics buccal swabs, Breda Genetics filter cards, saliva.
Need buccal swabs or filter cards?
We'll send you a bunch for free!
Our high-yield swabs and filter cards are made up of a special, extra-capturing material which ensures the collection of plenty of cells. As such, they are perfect for any kind of molecular genetics assay like exome and genome sequencing! Ask us a bunch at firstname.lastname@example.org: we'll send them right away!