1. Triple Diagnosis established by Whole Exome Sequencing

Triple Diagnosis established by Whole Exome Sequencing

Zafer Yüksel, MD 1 Jóri Balázs 1 Maria Calvo 1 Andre Megarbane 2 Oliver Brandau, MD 1 Prof. Peter Bauer, MD 1, 3 Prof. Arndt Rolfs, MD 1, 4
1 CENTOGENE AG 2 Institut Jerome Lejeune, Paris, France 3 University Hospital of Tübingen 4 University of Rostock
November 03, 2017

Whole exome sequencing (WES) was requested to determine the possible genetic cause of symptoms (table 1, figure 1) for a 37-year-old Lebanese patient. WES performed on Illumina Platform only for the index (Nextera Rapid Capture Exome Kit, ~95% of target bases were covered at ≥10x). All disease-causing variants reported in HGMD®, in ClinVar or in CentoMD® (class 1), as well as all variants with minor allele frequency (MAF) of less than 1% in ExAC/gnomAD were considered. Using WES as a diagnostic tool, three different molecular diagnoses (table 2) have been discovered for this patient with a complex phenotype (table 3).

These findings were presented at the ASHG 2017 annual conference.