Left ventricular noncompaction
Multigene panels contain genes related to a specific condition. From inborn malformations to adult neuromuscolar diseases, some disorders show similarity in the clinical signs but diversity in the genetic cause.
Our exome-based multigene panels are the perfect match for these conditions.
Tier-testing becomes smarter: as all our panels are based on exome, if the panel is negative, an immediate upgrade can be done to see all the exome, elucidating the differential diagnosis in the blink of an eye!
PANEL ANYCAP is structured to allow you choosing among one of our ~300 premade panels, or creating your own one according to your needs!
Capturings range from Cinical Exome Sequencing (5,200 genes) to Whole Exome Sequencing (20,000 genes with/without the mitochondrial DNA).
Panels based on Whole Genome Sequencing are also possible upon special request.
Easy and secure, with the support of our Professionals.
Exome sequencing is perfectly fit to solve the cases of diagnostic odyssey. For clearer genetic conditions, with an already definied clinical diagnosis, doing a panel may be faster and more cost-effective. If negative, we can always do the immediate upgrade to the entire exome data to shed light on the differential diagnosis.
ANYCAP stays for "any capturing", indicating that you choose the panel and, based on gene composition and best turaround time, we select the underlying capturing to enrich, from clinical exome sequencing (5,200 genes) to whole exome sequencing (20,000 genes with/without mtDNA). You can always request us to force the capturing to your preferred basis, from clinical exome to even whole genome! Forcing capturing is subject to an additional charge.
When possible, expert Colleagues already guess the genetic disorder of their patient by simply examining their clinical symptoms and signs (e.g. in certain neuromuscolar disorders or metabolic diseases). In such cases, doing PANEL ANYCAP may be the fastest and most convenient solution to confirm the Colleague's diagnosis genetically. And, if the panel is negative, we can always upgrade to full exome data analysis. Ask your Doctor to get in touch with us to learn more about PANEL ANYCAP
This answer highly depends on your Physician's conviction about your clinical status. If your Doctor is sure about a certain disease caused by well-known underlying genes, then PANEL ANYCAP may be the best solution. If your Doctors hesitates, then wider solutions suh as Whole Exome Sequencing and Whole Genome Sequencing may be better. Ask your Doctor to get in touch with us to learn more about PANEL ANYCAP and alternative solutions for you such as Whole Exome Sequencing and Whole Genome Sequencing.
SNVs stays for Single Nucleotide Variations. SNVs are consistent with a change of one single nucleotide of the DNA chain and they represent the majority of human disease-causing mutations. They can be perfectly detected by sequencing.
CNVs stays for Copy Number Variations. CNVs are consistent with large deletions or duplications of a piece of a gene. They are rarer than SNVs, although they represent up to 10% of all pathogenic mutations. Whole Exome Sequencing can detect CNV of very different sizes, being even more refined than other CNV-targeted assays such as array-CGH.
The mitochondrial DNA is a small molecule of DNA contained in the mitochondria, which are small cell organelles located in the cytoplasm. The mitochondrial DNA is exclusive of maternal inheritance. Pathogenic mutations in the mtDNA are found in at least 1 in 2.000 exomes. Such mutations can cause severe congenital polysyndromic conditions, like Leigh syndrome, or other diseases like Kearne-Sayres syndrome, Pearsons syndrome and others.
Incidental findings are pathogenic variants that are not related to the patient's clinical picture visible at this time. These pathogenic variants may cause severe diseases, which may be prevented by clinical surveillance and/or preventative treatments. The ACMG (American College of Medical Genetics) recommends scanning a specific list of genes for incidental findings in patients undergoing WES. Because this list may be systematically analyzed, incidental findings are also called "secondary findings". To see the current ACMG list of genes recommended for the scanning of incidental findings, please click here.
Carrier Screening is the screening of pathogenic mutations causing autosomal recessive or X-linked recessive diseases. Carrier screening may be limited to known mutations already deposited in the human databases (1st Level) or extended to new mutations identified by bioinformatic algorithms (2nd Level). See the related voices for more information.
Whole blood: EDTA-blood 1ml (purple cap). Fasting is not required before blood taking.
Dried blood spots: dried blood spots on filter cards. Request Breda Genetics Filter Cards for dried blood spots today.
Buccal swabs: two Breda Genetics buccal swabs. Request Breda Genetics high yield, auto-desiccant buccal swabs today.
DNA: Sterile DNA (min 1 μg) in TE or water. The analysis from lower DNA quantities is possible by low-input protocol (contact us for more information).
FFPE (Formalin-fixed paraffin-embedded tissue): autoptic tissue.
All sample can safely travel at room temperature, even overseas.