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.

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 23 pairs of chromosomes (called homologous chromosomes), in each of which one chromosome is inherited from the father and the other from the mother. Uniparental disomy (UPD) is an abnormal condition in which both copies of a chromosome (or a part of it) come from the same parent, without the contribution […]

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 […]

Phenotype expansion in rare disorders

By doing genetic testing through high-throughput Next Generation Sequencing, more specifically by doing whole exome sequencing and whole genome sequencing, patients affected by a well defined syndrome may be found to harbor a pathogenic mutation in a gene previously known to be associated with a different phenotype. Similarly, a patient with a certain syndrome caused […]

Turnaround time in genetic testing for rare disorders

Patients and physicians sometimes complain about the turnaround time (TAT) of genetic testing. Now, it should be mentioned that genetic testing is technically complex, requiring several steps of sample manipulation. Especially for what concerns genetic testing for rare disorders, there’s also a final step, maybe the most important one, which is the clinical interpretation of […]

Mental retardation: panel or whole exome sequencing?

To start with isolated mental retardation (i.e. patients which are affected by mental retardation only, with no other clinical signs or very mild additional traits) to finish with highly syndromic cognitive delay in patients who shows several malformations and/or metabolic imbalances, mental retardation is possibly the largest chapter in rare genetic disorders. Today, we know […]