IntelliGene – Whole Exome Sequencing (WES)

With WES, approximately 20,000 protein-coding genes in DNA are analyzed using Next-Generation Sequencing (NGS). This test identifies genetic variants that may cause disease, affect quality of life, or remain asymptomatic while being passed on to future generations.

It is particularly recommended for cases involving unexplained developmental delay, neurological findings, congenital anomalies, recurrent pregnancy loss, or a family history of genetic disease. WES supports identification of the genetic cause and helps guide appropriate treatment or follow-up strategies.

What Is the Exome and Why Is It Important?

Genes consist of exons and introns. Exons are the “coding” regions that contain instructions for protein production. The exome represents only about 1–2% of the genome, yet the majority of pathogenic variants are located in these regions. Introns are non-coding regions between exons.

Clinical Indications for WES

• Neurodevelopmental and metabolic disorders in newborns and early childhood

• Clinical presentations suggestive of genetic etiology but unexplained by standard testing

• Adult patients with inconclusive standard genetic results

• Rare, complex, diagnostically challenging developmental or functional disorders

• Risk assessment for familial disease predisposition

• Personalized nutrition planning based on nutrigenomic insights

• Personalized treatment planning based on pharmacogenomic data (drug response and adverse effect profiling)
  

Technical Specifications

*For a detailed sample collection, please contact our team.

Nesiller Genetics reports WES results by integrating family history, clinical data, and bioinformatic databases.

Genetic Counseling

• Pre-test counseling

• Clinical integration of results and family guidance

• Follow-up consultation