This is the list of genes included in Whole Exome Sequencing (all...Read More
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?
Getting biological samples from 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 you send to us, extracting every helpful information to guide whole exome sequencing, whole genome sequencing, or every other test. Then, should we realize that we need even more information, we’ll undoubtedly get in touch with you!
According to any custom agreements, we can bill you, the patient, or your institution.
Explore our broad portfolio to see how we can be your One-Stop solution for genetic testing.
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.
A few numbers from our commitment
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.
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.
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.
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.
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.
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.
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.
For any inquiries about prices, TATs, and intelligent logistics, please do not hesitate to contact us. We’ll answer you in 24 hours.