About us

Clinical Genomics for Diagnosis, Prevention, and Scale.

Clinical Genomics. Built with Intent.

Breda Genetics is a clinical genomics company delivering end-to-end genetic testing — from wet-lab processing to bioinformatics and clinical reporting — within a fully integrated clinical framework.

We operate a dedicated equipped genomic laboratory infrastructure, built to meet clinical and accreditation standards and to support both complex individual diagnostic work and scalable workflows.

At the core of our approach lies a simple principle:

Sequencing generates data. Clinical interpretation generates answers.

We specialize in advanced genomic testing, including Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), combined with rigorous phenotype-driven interpretation and clinically actionable decision support.

Clinical Genomics for High-Stakes Decisions

Not every genetic test carries the same clinical weight. Some genomic investigations influence life-changing decisions for patients, families, and healthcare professionals. At Breda Genetics, we focus on these situations, where analytical quality, phenotype-driven interpretation, and medical responsibility matter as much as the sequencing itself.

Our portfolio includes Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), targeted genomic applications, and Ultra-Fast Exome Sequencing for time-critical clinical scenarios. Ogni analisi viene scelta in funzione del quesito clinico del paziente, sia come indagine diagnostica di primo livello sia come parte di un percorso diagnostico più ampio.

Explore our services:

Rare Diseases & Unresolved Cases

A significant part of our work focuses on rare genetic diseases and patients whose diagnostic journey has remained unresolved despite years of clinical evaluations and previous testing.

We support individuals, families and clinicians in complex scenarios such as:

  • inconclusive or negative prior genetic results 

  • variants of uncertain significance (VUS)

  • complex and atypical phenotypes or overlapping syndromes

  • cases requiring advanced interpretation and re-analysis

In these situations, sequencing alone is rarely sufficient. What matters is the ability to integrate genomic data with clinical context and deliver a report that is clinically meaningful and decision-oriented.

Beyond Diagnostics: Proactive Genomics

Our proactive genomic programs are not a separate or secondary activity.
They are a direct extension of our deep clinical experience in rare diseases and complex genetic cases.

Years spent interpreting pathogenic variants, incomplete penetrance, variable expressivity and uncertain findings in affected patients have shaped the way we approach proactive genomics.

This clinical background provides two critical advantages:

  • Higher detection capability
    Our experience with disease-causing variants improves sensitivity in identifying clinically relevant findings, even when they appear subtle or atypical.

  • Deeper interpretative awareness
    Variants are not evaluated in isolation, but in light of real disease mechanisms, penetrance patterns and long-term clinical consequences.

Selected institutions we have worked with

Over the years, Breda Genetics has worked with hospitals, universities, research organizations and diagnostic laboratories in Italy and internationally.

Selected institutions include:

  • Regina Margherita Children’s Hospital (Turin, Italy)
  • Italian Institute for Genomic Medicine (Turin, Italy)
  • Sultan Qaboos University Hospital (Muscat, Oman)
  • Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
  • Fondazione Telethon (Rome, Italy)
  • Biotecgen SA (Bogotá, Colombia)
  • University of Florence (Florence, Italy)

 

Our clinical services are also accessed directly by patients and referring physicians across Europe and internationally, with online genetic counselling and coordinated sample logistics available throughout the diagnostic pathway.

Institutional Recognition

Breda Genetics is listed in national and international institutional registries that promote transparency, quality, and accessibility in clinical genomics. These listings provide healthcare professionals, patients, and collaborators with access to verified information about the laboratory and its diagnostic services.

Regione Lombardia
Authorized and Accredited Molecular Genetics Laboratory. Breda Genetics operates under the authorization and institutional accreditation granted by Regione Lombardia for the provision of clinical genetic diagnostic services. Regional Facility ID: 1547 · Laboratory Code: 098352.

NCBI Genetic Testing Registry (GTR)
Breda Genetics is listed in the National Center for Biotechnology Information (NCBI) Genetic Testing Registry, an international resource providing standardized information on genetic tests and laboratories. View the laboratory profile.

Orphanet
Breda Genetics is listed in the Orphanet directory of diagnostic laboratories for rare diseases, providing healthcare professionals and patients with access to information on the laboratory and its genetic diagnostic services. View the laboratory profile.

Headquarters

Breda Genetics is based in Brescia (Italy), with operational facilities at:

  • Via Cipro 1 (Registered Office)

  • Via Mantova 79 (Medical Genetics Laboratory)

Our facilities are reserved for institutional and business visitors.
Patients are supported through trusted partner clinics in Brescia or via online genetic consultations worldwide.

External Quality Assessment

Breda Genetics participates annually in national and international External Quality Assessment (EQA) programs, including EMQN, to ensure clinical-grade performance and reproducibility of its analyses.

View quality certifications