GENETIC TESTING/
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.
SEQUENCED
PER PERSON
(URGENT TAT)
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
Epilepsies
Congenital Malformations
Metabolic Diseases
Neuromuscular Disorders
Adult-onset Diseases
Mental Retardation
Epilepsies
Congenital Malformations
Metabolic Diseases
Neuromuscular Disorders
Adult-onset diseases
Who's the test for?
- Rare disease patients affected by an undiagnosed condition (diagnostic odyssey).
- Rare disease patients in whom even high yield Whole Exome Sequencing was negative.
- Healthy individuals with one or more relatives affected by a genetic disease.
- Pregnancies in which ultrasound examination is suggestive of a fetal genetic syndrome.
- Couples willing to know their reproductive risks for genetic conditions (see PROACTIVE).
- Healthy individuals willing to know about their genetic risks (see PROACTIVE).