GENOME DIAGNOSTICS

Among the approximately 20,000 genes that constitute the human genome, exons represent only 1%-2% of the total genome and nearly 89% of all known disease-causing variants are found within exons.

Exon analysis (WES) and all clinically relevant genes using Next Generation Sequencing technology (NGS) helps reveal genetic variants in individuals with rare and severe genetic diseases, identify genetic changes linked to monogenic diseases in healthy individuals who wish to have a family.

Whole Genome sequencing (WGS) covers besides exonic regions, non-coding variants of intronic or intergene regions described as ‘disease relevant’ in the HGMD and ClinVar databases.
WGS can identify genetic risk factors that are associated with multifactorial diseases, contributing to disease prevention.

Furthermore WGS analysis can identify responders and non-responders to specific drugs, with the aim of avoiding adverse side effects and optimising the dose of medication.

Next generation sequencing (NGS) can be used to analyse groups of genes associated with hereditary cancer syndromes, when such evidence exists, according to International Guidelines.
It also provides valuable genetic counseling to 1st and 2nd degree relatives on the risk of family members developing the same condition, and depending on the identified genetic variation can contribute to personalised treatment.

Chromosomal Molecular Analysis (CMA) contributes significantly in the diagnosis of a broad range of genetic diseases including mental retardation, autism, neurodevelopmental diseases with or w/o congenital anomalies (dysmorphic features) which remain undiagnosed with conventional Karyotype.
CMA detects deletions, duplications, and rearrangements >50kb in addition to the identification of marker-chromosomes.