Personal Genomics

iWES™ – Personal Whole Exome Sequencing, Analysis and Diagnostic

Together with our cooperation partner bio.logis Center for Human Genetics StarSEQ offers whole exome sequencing (WES) as a medical genetic diagnostic service. bio.logis Center for Human Genetics, is internationally accredited according to the requirements of the College of American Pathologists (CAP). The complete procedure is handled by bio.logis.

iWES™ can be offered as a validated human genetic diagnostic if:

• strong genetic etiology is suggested but concrete genes cannot be addressed
• atypical symptoms of a clinically diagnosed disease are present
• variants in multiple genes have to be considered as the molecular cause of health problems
• proband is healthy but
  • family history indicates a risk for a genetic disease that cannot be specified more detailed
  • seeks information about own and children´s risk for genetic disorders

iWES™ service in diagnostic quality includes: Laboratory services

• targeted sequencing of all coding regions known (exome) of the human genome
• covering the protein coding regions of ~22.000 genes
• containing ~85% of all disease causing genetic variants
• detection of ~50.000 single nucleotide variants (SNV´s) and insertions/deletions (InDels)

Evaluation of data

• development of filter strategy according to clinical request or gene-panels
• evaluation of plausibility for pathogenicity of genetic variants by research and analysis of clinical, in silico and in vivo-/in vitro data information
• filtering for variants in genes recommended by American College of Medical Genetics

Genetic expertise

• aggregated report and genetic expertise written by board certified medical geneticists and scientists for human genetics
• includes transparent description of data quality and filtering strategy
• primary findings: detailed explanation of association of variants with clinical features
• clinical interpretation referring to the given phenotype
• secondary findings: detailed description of disease associated variants in genes recommended to be reported by American College of Medical Genetics