HIGH THROUGHPUT SEQUENCING IN GENETIC DISORDERS

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By sequencing all human genes at once (whole exome and whole genome sequencing), genetic testing can be done in the blink of an eye. Based on the clinical information, we can look immediately at the most appropriate gene or panel or go straight to the interpretation of all data. For every clinical case, we have the right solution.

Breda Genetics deploys an articulated portfolio of tests, which comprises four different whole exome sequencing solutions (MENDEL FULL, EXOME 15MB, EXOME 60MB, EXOME 90MB), whole genome sequencing 30x (GENOME FULL), a list of hundreds of fully customizable exome or genome-based multigene panels (EXOME PANEL, GENOME PANEL), and a complete range of other forefront solutions and ancillary services, from exonic/multiexonic algorithmic CNV analysis based on NGS data (EXOME CNV, GENOME CNV), to family segregation studies, MLPA/qPCR and repeat expansion testing (SANGER CARRIER, SANGER GENE, MLPA/qPCR GENE, REPEAT PLUS).

The landscape of clinical genetics worldwide is often marked by widespread difficulty in accessing genetic counselling and genetic testing, either for geographical reasons, limited budgets or absence of equipped facilities. We make a point of giving access to medical genetics services to as many people as possible, offering acceptable turnaround times and fees. If you are unsure on whether you are in need of genetic testing, please request your genetic counseling now.

Genetic stroke syndromes

Panel testing recommended at Breda Genetics for this condition: Pan272 – Genetic stroke syndromes (ACTA2, ADA2,  APP, COL3A1, COL4A1, CST3, FBN1, GLA, GUCY1A3, HBB, HTRA1, ITM2B, NOTCH3, RNF213, TREX1, mtDNA) Cerebral stroke is a major cause or morbity and moratility. In most cases, stroke is a result of multifactorial interactions and is not primarily genetic. […]

Expanded Carrier Screening

Every person is a carrier of AR/XLR mutations Pathogenic mutations causing autosomal recessive (AR) and X-linked recessive (XLR) genetic diseases are rare, but each of us is a healthy carrier of at least 5 AR/XLR conditions, according to estimates. So, we are all potentially exposed to specific reproductive risks for rare disorders, although such risks […]

Cerebral cavernous malformations

Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord. They are formed by closely clustered, enlarged capillary channels (so called “caverns”) consituted by a single layer of endothelium, which is abnrormally thin. The vessels are filled with slow-moving or stagnant blood that is usually clotted or in a state of decomposition. […]

Deep intronic mutations

Definition Deep intronic variants are those genetic variants  falling more than 100bp away from the closest exon-intron boundary. Of course, like all other type of variants, deep intronic variants may be be pathogenic, but their pathogenicity is hard to be confirmed. They can be considered as the ‘dark side’ of the mutational spectrum of a […]

Pseudogenes

Definition In most cases, a pseudogene can be considered as the ancient extra copy of a preexisting protein-coding gene (called parental gene), that undergoes a process of pseudogenization by disruption to its sequence due to accumulation of deleterious mutations. The result is usually a ‘nonfunctional gene’ with high sequence homology with the parental gene.  

Genetic testing in recurrent pregnancy loss: when and which

Of all the clinically recognized pregnancies, about 15% end in a miscarriage, making this event one of the most common adverse events. Unfortunately, about 2-5% of couples take on recurrent pregnancy loss (RPL). However, “Recurrent pregnancy loss” definition, which according to the European Society of Human Reproduction and Embryology is the presence of two or […]

Sequencing machines: Roche 454

The first NGS platform Talking about the system of the Roche 454 means starting from the dawn of Next Generation Sequencing. The first three Next Generation Sequencing (NGS) platforms were produced by three independent companies which, a little later, were acquired by other industrial groups. System 454 is based on pyrosequencing, a technique based on […]

Genomic imprinting: 10 questions and 10 answers

An epigenetic event Genomic imprinting, although very studied, has many dark sides, even among healthcare professionals. Here are 10 frequently asked questions with relative answers on this phenomenon. 1. What is genomic imprinting? Genomic imprinting is an epigenetic process that modifies the DNA molecule without changing its nucleotide sequence. Regulator mechanisms of imprinting are not […]

Autosomal dominant inheritance

From parent to child Autosomal dominant inheritance happens when a genetic disorder is caused by a mutation in only one of the two copies of a gene (the paternal or the maternal one). In autosomal dominant inheritance, the disorder is transmitted from the parent to the offspring, but the parents can sometimes be clinically healthy […]

Mitochondrial genome

Only 37 genes Mitochondrial genome is contained in mitochondria, organelles responsible for cellular respiration. It is a small circular molecule present in a high number of copies. Mitochondrial genome has only 37 genes: 24 encode for transfer-RNA (tRNA) and ribosomal RNA (rRNA), while the other 13 genes are protein-coding. About 93% of mitochondrial DNA sequence […]