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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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Galactosemia

Panel testing recommended at Breda Genetics for this condition: Pan251 Galactosemia (GALE, GALK1, GALM, GALT) Summary Galactosemia includes a group of rare metabolic disorders due to the body’s inability to metabolize galactose, a carbohydrate contained in milk and its derivatives, which consequently accumulates in the blood. It is a congenital genetic defect, transmitted in an autosomal recessive pathway, which can be responsible for a very

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Bartter syndrome

Panel testing recommended at Breda Genetics for this condition: Bartter syndrome (BSND, CASR, CLCNKA, CLCNKB, KCNJ1, MAGED2, SLC12A1, SLC12A3) Summary Bartter syndrome (whose name derives from the endocrinologist who discovered it in 1962) includes a group of rare kidney diseases that belong to the class of primitive tubulopathies or salt-losing tubulopathies. These diseases are due to an impaired ability to reabsorb electrolytes such as sodium,

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Turner syndrome (chromosome X monosomy)

Summary Turner syndrome, also known as monosomy of the X chromosome, is a chromosomal disorder due to the total (monosomy) or partial absence of an X chromosome in a female individual. Turner syndrome is characterized by a wide phenotypic variability, which includes very serious clinical pictures that are evident even before birth to very blurred pictures in which the diagnosis arrives after puberty. Detailed clinical description

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CAVD (Congenital Absence of the Vas Deferens): is it possible to become a father?

What is CAVD? Congenital absence of vas deferens (CAVD), also known as CBAVD (when is bilateral), is a genetic condition due to the total or partial non-development of the vas deferens, whose task is to transport sperm. CAVD is one of the main causes of obstructive azoospermia, responsible for numerous cases of male infertility. Obstructive azoospermia is the absence of spermatozoa in the ejaculate, due

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VUS in WES

How many genetic variants do we have? When sequencing the entire human genome (whole genome sequencing), the average number of variants detected in one person is about 4 million. From whole-exome sequencing, the number of genetic variants detected is very high too. So, how do we guess the clinical significance of all those variants? The vast majority of genetic variants are polymorphisms, i.e. variants with high

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Pseudoxanthoma Elasticum

Panel testing recommended at Breda Genetics for this condition: Pseudoxanthoma elasticum (ABCC6, ENNP1, GGCX Summary Pseudoxanthoma elasticum (PXE) is a rare progressive genetic disorder that causes the fragmentation and calcification of elastic fibers due to the accumulation of minerals in the connective tissue. The organs mainly affected are the skin, the eye, the cardiovascular and gastrointestinal systems. The onset is usually after puberty. The most characteristic clinical

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Congenital defects of bile acid synthesis

Panel testing recommended at Breda Genetics for this condition: Congenital bile acid synthesis defect (ABCD3, ACOX2, AKR1D1, AMACR, CYP7B1, HSD3B7) Summary Congenital defects of bile acid synthesis (BASD) are a group of rare metabolic disorders due to a primary defect in the production of bile acids and are part of the class of progressive liver diseases. Bile acids are substances produced by the liver, starting from cholesterol,

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Recurrent pregnancy loss (RPL): definitions and etiology

Recurrent pregnancy loss (RPL): what is it? Pregnancy loss is the most common adverse event of pregnancy. However, the definition of recurrent pregnancy loss (RPL) is far from unambiguous: the Royal College of Obstetricians and Gynecologists (RCOG) defines RPL as three or more consecutive spontaneous miscarriages (RCOG 2011), while the American Society for Reproductive Medicine (ASRM) defines RPL as two or more consecutive miscarriages (Practice

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Fetal Alcohol Spectrum Disorders and differential diagnosis

Summary Fetal Alcohol Spectrum Disorders includes numerous conditions due to exposure to alcohol during pregnancy. Alcohol has a teratogenic effect, it is able to cross the placental barrier and reach the fetus, which however lacks the enzymes necessary to metabolize it. Long exposure to alcohol and its metabolites (such as acetaldehyde) causes harmful events to fetal development, especially as regards the central nervous system. The

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Genetics of male infertility

Breda Genetics panel recommended for this condition: Pan73 – Male infertility (AK7, AR, ARMC2, AURKC, AZF, BRDT, C14ORF39, CATSPER1, CATSPER2, CEP112, CFAP43, CFAP44, CFAP58, CFAP58, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, DEFB126, DEFB128, DNAH1, DNAH17, DNAH2, DNAH8, DPY19L2, DZIP1, FANCM, FSHR, FSIP2, HSF2, KLHL10, LHCGR, M1AP, MAATS1, MEIOB, MSH4, MSH5, NANOS1, NR5A1, PICK1, PLCZ1, PLK4, PMFBP1, PPP2R3C, QRICH2, SEPT12, SLC26A8, SOHLH1, SPAG17, SPATA16, SPEF2, SPINK2, STX2,

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Short sleepers: awake after just 6 hours of sleep!

It seems we have discovered the reason why some people, being a “short sleeper”, need just 6 hours of sleep, being well awake at 5 o’clock in the morning! So, if we’ll be late in the morning, we’ll be able to say that it’s not our fault, it’s a matter of Genetics instead! So, let’s thank the University of California San Francisco! The researchers there

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Low-pass genome sequencing: a new perspective for genome-wide CNV analysis

NGS, coverage depth, and CNV detection. Next-generation sequencing (NGS) has completely transformed the world of genetic testing, enabling us to sequence human whole exome or whole genome in one single experiment at an unprecedented scale, capacity and convenience. High-throughput sequencing based on short reads has empowered laboratories worldwide. We can now sift a huge amount of data to single out pathogenic mutations in a faster

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Coverage in next-generation sequencing

What does “coverage” mean? Although the meaning of the term “coverage” may seem very simple, this term is often misused. In the context of Next-Generation Sequencing (NGS), coverage indicates the average number of reads that “cover” a specific target region. Coverage, therefore, always describes a relationship between the number of reads and a reference region and can be expressed in terms of percentage or average

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CNV analysis: a chimera?

[siteorigin_widget class=”WP_Widget_Media_Video”][/siteorigin_widget] CNV analysis based on NGS data: has the dream come true? 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,

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Start-loss mutations in rare diseases

Point mutations: an overview 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 mutations (also named SNV, Single Nucleorite

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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 we need to take into account. Here we describe some

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Unraveling uniparental disomy

Chromosomes from one parent only: this is uniparental disomy (UPD)! 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

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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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