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Explore our Medical and Scientific content to learn more about rare diseases and their testing methods or about current hot topics in Medical Genetics. Exploit our publications to get hints for testing, or even to direct the Genetic Counseling for your patients.  

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Robertsonian translocations: what to do?

Robertsonian translocations: what are they? Robertsonian translocations are chromosomal rearrangements involving two acrocentric chromosomes. Robertsonian translocations are actually the most frequent chromosomal rearrangements in humans, showing an incidence of 1 in 1,000. A difference between Robertsonian translocations and balanced translocations is that people with a Robertsonian translocation have 45 chromosomes instead of 46. The translocation occurs when two acrocentric chromosomes lose their short arms (also

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Infertility: genetic causes

What’s infertility? 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 reproductive desires are not equal for all and,

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Balanced translocations: what to do?

Balanced reciprocal translocation: 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 of the small arm

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What’s the right price for whole exome sequencing?

What’s the right price of 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 individual (that

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Phenotype expansion in rare disorders

What is phenotype expansion? 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 by a mutation in a known

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Turnaround time in genetic testing for rare disorders

Genetic testing: a complex workflow. 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 the results. Genetic testing has

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Mental retardation: panel or whole exome sequencing?

Mental retardation: an avalanche of genes. 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 thousands of genes of

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Semi-dominance and rare disorders

Mechanisms of inheritance: a more complex situation than expected The first studies on inheritance were conducted by Gregor Mendel, the father of Genetics. He discovered that phenotypic traits (e.g. hair or eye color) where defined by the genes (DNA). Each gene has two alleles, one inherited from the mother and one inherited from the father. These alleles may be identical (homozygous alleles) or different (heterozygous

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Small and large mutations: how do we sail among different mutation sizes?

How large can a mutation be? Genetic variations in the human genome can differ very much in size. Starting from the smallest mutations possible, the SNV (single nucleotide variation), up to the deletion of an entire chromosome, you can find mutations of every size in the middle! The vast majority of pathogenic mutations are SNVs or small indels, which may be detected by standard sequencing,

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Bed files in Next Generation Sequencing

What are the bed files? If you are interested, or directly involved, in Next Generation Sequencing applications for research or clinical diagnostics, especially in whole exome sequencing or targeted multigene panel testing, you’ve certainly heard of the so-called bed files. If you haven’t heard of them yet, you’ll soon need to learn what they are and how to use them! The bed files are reference

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Non-coding exons in the diagnosis of rare disorders

Coding and non-coding exons in the genes structure Genes are the coding part of the genome and represent only 2% of the entire DNA chain. Despite this, the vast majority of pathogenic mutations causing rare disorders (up to 85%) falls right in the genes.  Genes have a well-defined structure: they are made up of exons, which represent the coding part, alternate with introns, which represent

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Amino acid codes (symbols)

Amino acids codes (symbols) are listed below (1 and 3 letters codes). Approved nomenclature for reports is the 3 letters code: Amino acid Code (1 letter) Code (3 letters) (official) Alanine A Ala Arginine R Arg Asparagine N Asn Aspartic Acid D Asp Cysteine C Cys Glutamic Acid E Glu Glutamine Q Gln Glicine G Gly Histidine H His lsoleucine I Ile Leucine L Leu

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SIMMENS 2019 – Oct 2019, Turin (Italy)

Where: Turin (Italy)   When: 22-25 October 2019   Breda Genetics Booth: #19 Torino, prima Capitale, città universitaria e dell’innovazione industriale, è internazionalmente nota per la sua eleganza architettonica e vividezza culturale. Storica sede di gloriose società sportive e già città olimpica nel 2006, Torino diventerà anche capitale del tennis mondiale ospitando le prossime “ATP finals” dal 2021 al 2025. Il X Congresso SIMMESN di Torino dal titolo

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Niemann-Pick disease

Recommended panel testing at Breda Genetics for this condition: Niemann-Pick disease (NPC1, NPC2, SMPD1) Summary The eponym Niemann-Pick disease (NPD) encompasses two distinct metabolic defects. The first includes NPD types A and B and is due to deficiency of the acid sphingomyelinase (ASM) enzyme. The second defect, namely NPD type C, is mainly due to accumulation of unesterified cholesterol and glycosphingolipids within the late endosome/lysosome

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