Genes/Chromosomes:
Panel Exome (genes are continuosly updating regarding the expert lists for any specific rare disease)
Method:
Library Twist, Sequencing Illumina 2x150 Novaseq 6000.
Sample Type/Requirements:
Whole Blood, Extracted DNA, Saliva
Turnaround Time:
4 weeks for the clinical report excluding confirmatory analyses and 2 weeks for raw data
Stability:
If the sample is transported at room temperature, the sample must reached our facility within 4 days. in case of longer transport time, please send the sample in refregirated condition.
Download the full Primary Sample Manual (PSM)