Professionals

Always at your side

Helping you managing the situation

A patient affected by a rare disease requires much attention, from the initial clinical manifestations to the symptomatic treatment and clinical follow-up. Supporting the patient’s family also involves plenty of the physician’s energy. We know how difficult this may be, especially when answers are still missing: what is the patient affected by?

The benefits

How does it work?

Analyzing genetic cases sent by Geneticists, Pediatricians, and other Specialists is our daily routine. We take care of all the processes, from the DNA extraction to the final Medical Report.

We’ll carefully review all the clinical documentation, extracting every piece of information to drive whole exome sequencing, whole genome sequencing, and any other genetic study. In case we need more information, we contact you right away!

We can bill you, the patient, or your institution.

Talk with us about your clinical case to choose the best testing option

Have the patient's sample collected by our express courier for free

Wait for the final results to give your patient the answers

Our Solutions

Explore our broad portfolio to see how we can be your One-Stop solution for genetic testing.

Whole Exome Sequencing

Best-in-class Exome Sequencing, by the Leaders in Medical Genetics

Whole Genome Sequencing

High-Throughput Genetic Testing without compromises

Multigene Panels

Thorough panel testing based on exome or genome capturing.

Quality first

Breda Genetics enrolls in quality assessment programs each year to ensure the maximum quality of its analyses. Since 2018, we have participated in the most prestigious program for Molecular Genetics: the EMQN.

2018: BRCA (full scheme - 3 samples)
Result: SATISFACTORY
2019: HBOC - Hereditary Breast-Ovarian Cancer (panel testing - 3 samples)
Results: SATISFACTORY
2020: CARDIAC (ARR) - Panel testing for cardiac arrhythmias (3 samples)
Results: SATISFACTORY
HD - Repeat expansion testing for Huntington disease (3 samples)
Results: SATISFACTORY
2021: CMT/HNPP - Panel testing for Charcot-Marie-Tooth disease (3 samples)
Results: SATISFACTORY

Talk to our experts

Send us an email or call us: ending the odyssey of your patient is just a few words away.

How can I shorten my turnaround times?

How can I send the samples without worrying about Logistics?

A few numbers from our commitment

0 h

The time it gets for an answer

+ 0

Specialists who have aready chosen us

+ 0

Rare mutations we have already characterized

Applied creativity

Providing superior performance in whole exome sequencing and whole genome sequencing also requires creativity. So, we keep updating our human interpretation SOPs and designing new bioinformatics scripts. An example is our PanOrpha panel, which we run in every negative exome and genome.

PanOrpha

The PanOrpha panel contains 300+ new gene-disease associations which are not deposited in the OMIM database yet. We run it systematically in every negative exome and genome.

Educating to keep learning

Keeping up to date with the latest scientific news, the most modern sequencing technologies, and the newest gene-disease associations is essential for the performance of our tests. Publishing and sharing our knowledge stimulate us to learn even more.

List of genes (Whole Exome Sequencing)

This is the list of genes included in Whole Exome Sequencing (all...

Genetic stroke syndromes

Panel testing recommended at Breda Genetics for this condition: Pan272 – Genetic...

Cerebral cavernous malformations

Summary Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and...

Thanatophoric dysplasia

Panel testing recommended at Breda Genetics for this condition: Skeletal dysplasias, extended...

Familial non-Hodgkin lymphoma

Non-Hodgkin lymphoma (NHL) is an immunological cancer developing from lymphocytes. It mainly manifests...

Bone marrow failure

Panel testing recommended at Breda Genetics for this condition: Bone marrow failure (BRCA2, BRIP1,...

Rare genetic forms of obesity

Panel testing recommended at Breda Genetics for this condition: Obesity (MC4R, LEP,...

Polycystic kidney disease

Panel testing recommended at Breda Genetics for this condition: Pan29 – Polycystic kidney disease...

Believing in open science

We are firmly convinced that sharing experience and clinical interpretation about rare mutations is of help for the entire community and, in the end, for the patient. That's why we continuously give our contribution to the biggest database of human mutations: ClinVar.

FAQ

How do I ship the sample overseas?

You can send us liquid blood, DNA, buccal swabs, or dried blood spots on our special filter cards. Our express courier is well prepared for any type of transport. Contact us for shipping recommendations and for our filter cards or swabs.

How does billing work?

This is really up to you: we can bill you directly, or we can bill your patient. If your institution or charity association has an agreement with us, we can also bill them accordingly.

Can I place the order online?

Sure! It's smooth and easy! Just go to personal.bredagenetics to register yourself. The system will automatically retrieve your data at any new order, so it will take one minute for you to complete the submission.

Once you submit the electronic order on personal.bredagenetics, you'll get a PDF with all the order details. The PDF also contains the informed consent, which your patient can sign.

Have more questions?

For any inquiries about prices, TATs, and intelligent logistics, please do not hesitate to contact us. We’ll answer you in 24 hours.