HIGH THROUGHPUT SEQUENCING IN GENETIC DISORDERS

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.

Low-pass genome sequencing: a new perspective for the CNVs analysis

In the past decade next-generation sequencing (NGS) technology has completely transformed the world of genetic testing, enabling us to sequence the whole exome or whole genome in one single experiment with unprecedented scale, capacity and convenience. The high-throughput sequencing based on short reads empowered the laboratories to search huge amount of data to single out […]

CNV analysis: a chimera?

The term Copy Number Variations (CNVs) is traditionally referring to intermediate-scale large deletions/duplications of 1 kb to 5 kb in size. However, in practice, when the analysis is based on data from Next Generation Sequencing (NGS), CNV is used every day more to identify deletions/duplications of any size larger than 50 bp, from one single […]

Start-loss mutations in rare diseases

Mutations are inheritable changes in the DNA sequence. Mutations can be of different size and may affect a single gene (genic mutations), one or more chromosomes in their structure (chromosomal aberrations), or one or more chromosomes in number (genomic aneuploidies). Genic mutations involve one or few single nucleotides. So they can be consistent with point […]

Mutation-genetic disease paradigm: a bewitching picture without a frame

The world of human genetics is wonderfully complex. Next-generation sequencing technologies implemented in genetic testing for rare disorders are impressive tools for searching throughout the whole human genome and singling out mutations causing mendelian diseases. However, although mendelian inheritance may look simple, its mechanisms is usually tangled in a wide range of biological phenomena that […]

Unraveling uniparental disomy

Normally, every human has 22 pairs of chromosomes (called homologous chromosomes or homologs or autosomes) plus one couple of sexual chromosomes (which are two X chromosomes in females and one chromosome X plus one chromosome Y in males). For normal development, we need that, for each pair of autosomes, one is inherited from the mother […]

Robertsonian translocations: what to do?

A Robertsonian translocation is a chromosomal rearrangment involving two acrocentric chromosomes. Robertsonian translocations are actually the most frequent chromosomal rearrangment in humans, showing an incidence of 1 in 1,000. A difference between Robertsonian translocations and balanced translocations is in that people with a Robertsonian translocation has 45 chromosomes instead of 46. The translocation takes place […]

Segmental duplications

Segmental duplications (also known as or low-copy repeats) are DNA fragments longer than 1 Kbp (i.e. 1,000 base pairs), distributed within and between chromosomes and sharing more than 90% genomic sequence identity. They are thought to hold a significant role in evolution and adaptability, although their functional significance remains largely unknown, also due to the […]

Infertility: genetic causes

Following the Wolrd Health Organization (WHO) definition, infertility is a “a disease of the reproductive system defined by the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse.” Whether infertility should be considered a disease should probably be a question of sensitivity and perception of each patient, as […]

Balanced translocations: what to do?

A balanced reciprocal translocation consists of reciprocal material exchange between two non-homologous chromosomes. Usually, balanced reciprocal translocations can be diagnosed by karyotype analysis (an example of translocation name within a karyotype report could be: 46,XX,t(12:18)(p12;q12.3), which stays for female karyotype with an apparently balanced translocation between chromosomes 12 and 18, which exchanged the region p12 […]

What’s the right price for whole exome sequencing?

This is one of the most frequent questions I am being asked and one of the most searched on the internet: what’s the price of whole exome sequencing (which consists of the sequencing of all human genes)? Of note, whole exome sequencing does not consist in the sequencing of the entire genetic heritage of an […]