Whole Exome & Genome Sequencing
Trio WES and WGS are options if the condition does not fit into any of the other boxes. Rather than focusing on select genes according to the condition, the entire exome/genome is sequenced to identify a relevant cause. The analysis is also performed for the parents for at better understanding of the results.
The test is performed as data extract (virtual targeted panel) from whole exome data.
Chemistry: Twist Biosystems Human Core Exome
Hardware: Illumina Novaseq 6000 Sequencer
Data processing: Variant calling and filtering is performed with an in-house bioinformatic pipeline.
Metrics: Average read depth >100-fold. On target coverage >97% at a >20-fold read depth.
By ordering an analysis at Amplexa Genetics A/S, the requester confirms to have obtained the necessary informed consent for the performance of the requested analyses, and accepts Amplexa Genetics Terms and Conditions. A hard-copy requisition or an e-mail stating the specific analysis together with the receipt of a sample is considered an order to conduct the analysis.
From the day of order receipt the turn around time is 5 weeks.