GENETIC TESTING/
Whole Genome Sequencing
When the journey calls for a higher level of resolution.
International patients managed remotely.
Whole Genome Sequencing (WGS) is not a routine test.
It is considered when a patient has an unresolved condition and the standard diagnostic path has already failed — sometimes even after a high-yield Whole Exome Sequencing.
The goal is not “more data”, but less uncertainty.
In selected cases, sequencing the entire genome can reveal clinically relevant variants that are not visible with exome-based approaches, and can help reach a defensible conclusion — even when the result is not a single clear mutation.
Although WGS represents the broadest genomic approach currently available,
the diagnostic value of broader sequencing may also depend on the presence of parental genomic context.
→ Read: WES trio or WGS solo?
Some diagnostic answers may lie beyond the coding regions: WGS extends the analysis to deep intronic and other non-coding variants that are not reliably assessed by WES.
→ Read: Deep intronic variants: can they explain an unresolved genetic condition?
The Clinical-grade Whole Genome Sequencing
A comprehensive genome-wide analysis designed to support high-stakes clinical decisions.
Integrating sequencing and clinical interpretation in complex diagnostic contexts.
Genic & Intergenic
Variants beyond protein-coding genes
CREs
Disruption of gene regulatory mechanisms
mtDNA & CNVs
Structural and mitochondrial genomic variants
Carrier Status
Optional reproductive insights
Clinical Responsibility
Phenotype-driven clinical interpretation
Secondary findings
Actionable secondary phenotypes
Every genetic disease can be screened
Mental Retardation
Epilepsies
Congenital Malformations
Metabolic Diseases
Neuromuscular Disorders
Adult-onset Diseases
Mental Retardation
Epilepsies
Congenital Malformations
Metabolic Diseases
Neuromuscular Disorders
Adult-onset diseases
Clinical Situations
Selected examples from clinical practice
When the clinical question warrants the highest resolution
GENOME FULL
- 20,000 Human Genes
- All Exons + Introns
- Intergenic Regions
- SNV - Single Nucleotide Variations
- CNV - Copy Number Variations
- mtDNA
- CREs
- Incidental / Secondary Findings
- Secondary Phenotypes
- Carrier Screening 1st level
- TAT: 4-6 weeks*.
*Reflecting the depth of analysis and clinical responsibility involved in genome-wide interpretation.
Sequencing generates data.
Interpretation generates diagnosis.