Whole Genome Sequencing

The most comprehensive DNA study, by the Leaders in Medical Genetics

What is Whole Genome Sequencing?

Whole Genome Sequencing (WGS) yields 4,000,000 genetic variants per person, which must be carefully filtered and interpreted to find the pathogenic mutation of a rare disease. In addition, several other variants may be isolated to unveil secondary phenotypes, incidental findings, and the carrier status for other rare conditions.

Doing Whole Genome Sequencing means sequencing all 20,000 human genes and intergenic regions. For every gene, both exons (coding) and introns (non-coding) are sequenced. This is an approach without compromises to studying a person’s DNA and represents today the most potent tool to end the diagnostic odyssey of rare disease patients.


What does WGS include?

Whole Genome Sequencing is aimed to identify the pathogenic mutation in rare disease patients. Besides this, it produces genetic information at an unprecedented knowledge depth.

+ 20,000 Genes (Exons / Introns)

All human genes in their exons (coding) and introns (not-coding), to detect even deep intronic mutations not visible by WES.

+ CREs

Regulatory regions upstream and downstream of a gene (Cis-acting Regulatory Elements), which may harbor pathogenic mutations.

+ Mitochondrial DNA & CNVs

Our WGS includes the entire mitochondrial DNA and CNV screening at an unprecedented resolution.

+ Carrier Screening

Carrier screening for recessive genetic diseases to calculate a couple's specific reproductive risk.

+ PanOrpha

Running our internal panel of 300+ new gene-disease associations not deposited in databases yet.

+ Incidental Findings

From cancer to sudden death, we may harbor pathogenic mutations which can cause severe disease in the future.

Every genetic disease can be screened

Mental Retardation


Congenital Malformations

Metabolic Diseases

Neuromuscular Disorders

Adult-onset Diseases

Mental Retardation


Congenital Malformations

Metabolic Diseases

Neuromuscular Disorders

Adult-onset diseases

Who's the test for?

I’m healthy, do I need WGS?

Whole Genome Sequencing is the broadest possible study of one's DNA. Only highly experienced clinical scientists can give you precious insights into your genetic data to ease prevention, medical care, and family planning. See our PROACTIVE solutions.

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How does it work?

Easy and secure, with the support of our Professionals.

Order the test

Buy the test online today. If you don't have a Geneticist, you can add the Genetic Counseling option.

Specimen collected

Receive our kit for sample taking at home and wait for our courier to collect and ship it to us. You can also come to our clinic for sample taking if you wish.

Testing performed

It will take just a few weeks to perform the test, from the DNA extraction to the Medical Report.

Results delivered

We'll send you the Medical Report by email and our Geneticist will explain you the results online. Alternatively, you can come to our clinic to receive the results personally.