Whole Exome Sequencing: the fastest and most accurate way to a clear genetic diagnosis
For patients and families looking for answers. Whole exome analysis with advanced clinical interpretation and dedicated medical support.
Recommended in case of suspected genetic disease, epilepsy, developmental disorders, or undiagnosed rare syndromes, and even for helthy individuals, with preventive scope.
Why consider an exome test?
The clinical exome is one of the most effective tools to identify the genetic cause of many conditions, especially when diagnosis remains uncertain despite previous investigations.
- Developmental delay
- Epilepsy
- Neuromuscular disorders
- Autism and neurodevelopmental disorders
- Rare syndromes
- Unexplained complex clinical pictures
When is it particularly indicated?
- When several specialists suspect a genetic disease but no diagnosis has been reached yet.
- When other tests (e.g. targeted panels) have not provided a conclusive result.
- When neurological or multisystem symptoms of unknown origin are present.
- When you want a comprehensive genetic assessment from the very beginning.
Why Breda Genetics
Breda Genetics is a laboratory specialised in Medical Genetics, with a strong focus on advanced exome analysis and rare diseases, boosted by the experience in the analysis of clinical cases from all over the world.
International-level accuracy
We use state-of-the-art NGS technologies and an advanced bioinformatics pipeline to ensure high coverage and reliable variant interpretation.
Clear report and clinical support
Reports are structured to be understandable for both physicians and patients, with the option of a dedicated genetic counselling session to discuss the findings.
Fast turnaround time
Results are generally available within 4–6 weeks, so that waiting times do not become longer than necessary.
Option for trio analysis
Trio analysis (patient + parents) significantly increases the diagnostic yield and clarity in variant interpretation, especially in paediatric and complex cases.
Breda Genetics is officially accredited as a Diagnostic Medical Genetics Laboratory by the Lombardy Region (Italy), operating under certified diagnostic quality and regulatory standards for Whole Exome Sequencing, Whole Genome Sequencing and Multigene Panel Testing (Structure n. 1547 – Structure and Lab code 098352).
Our collaborators and international reach
Over the years, Breda Genetics has collaborated with several prestigious clinical and academic institutions, including the University of Turin, University of Florence, University of Verona, University of Chieti, the Carlo Besta Neurological Institute, Sultan Qaboos University Hospital (Oman), Biotecgen SA (Colombia), Hospital Carlos Andrade Marín (Ecuador), ATGen (Uruguay), and several others. Patients and families seeking our genetic counseling or diagnostic services have come not only from Italy, but also from Switzerland, the Netherlands, Luxembourg, France, Germany, Romania, Albania, the United States, and many other countries worldwide.
How the process works
We designed a simple, guided pathway to reduce stress for patients and families as much as possible.
We assess whether the exome is truly the most appropriate test in your case and clarify any questions you may have about the process through a formal genetic counseling session with a Medical Geneticist.
Buccal swab or blood. We can ship the collection kit directly to your home or coordinate sampling with a trusted facility or a nurse in your area.
Your DNA is analyzed on state-of-the-art platforms and your data get elaborated by our AI-boosted Bioinformatics, before landing to the Geneticist’s desk for the final genetic variant interpretation, conclusions, and signature.
You receive the medical report in pdf during another online genetic counselling session to discuss the results and possible next steps.
Whole Exome Sequencing options and pricing
Every clinical case is unique. During the initial consultation we will help you choose the most appropriate option and explain all costs and available add-ons in a transparent way.
Recommended when it is not possible to include both parents in the analysis or when the clinical picture is already well defined.
- Sample collection (swab or blood)
- NGS exome sequencing
- Advanced bioinformatics analysis
- Medical report
- Dedicated patient support
The option with the highest diagnostic yield, ideal in paediatric and complex multisystem cases.
- Sample collection from patient and parents
- NGS exome sequencing in trio
- Comparative variant analysis
- Detailed medical report
- Dedicated support for the whole family
In which situations can exome testing help?
Exome testing can be considered whenever there is a suspicion of an underlying genetic cause for an unclear clinical picture.
- Suspected genetic disorder with no definitive diagnosis so far.
- Epilepsy, seizures or neurological regression of unknown origin.
- Delay in language, motor or cognitive development.
- Autism spectrum disorders associated with additional clinical features.
- Multiple congenital anomalies or unexplained malformations.
- Multisystem conditions followed by several specialists without a unifying diagnosis.
Not sure if this is right for your case?
During the initial genetic counseling we can assess together whether exome testing is the best option, or whether it would be more appropriate to start from other investigations.
Frequently asked questions
What families we support say
Don’t stay without answers
If you suspect a genetic condition or if the diagnostic process has stalled for a long time, exome testing can be a key step. Let’s start with a formal genetic counseling. It’s a medical act, with a value for life (even if you won’t do the test!).
Request information or a free consultation
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