Breda Genetics srl

Polycystic ovary syndrome (PCOS)

Summary Polycystic ovary syndrome (PCOS) is a hormonal disorder common among women of reproductive age. Detailed clinical description Polycystic ovary syndrome (PCOS) is a hormonal disorder common among women of reproductive age. Women affected by PCOS experience infrequent or longer menstrual periods or increased levels of androgens. Follicles (cysts) containing fluid appear in the ovaries.

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Practical guide to genetic testing in pediatrics

If you are not a Geneticist and you have to approach the world of genetic testing, you may have some difficulty in choosing the best test for your patient. In recent years, thanks to the advancement of Next-Generation Sequencing (NGS) technologies, the lowering of their costs and the increase in knowledge about genetic diseases, the

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Primary ciliary dyskinesia

Panel testing recommended at Breda Genetics for this condition: Pan28 – Primary ciliary dyskinesia (ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP221, CFAP298, CFAP300, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXJ1, GAS2L2, GAS8, HYDIN, LRRC6, LRRC56, MCIDAS, NEK10, NME5, NME8, OFD1, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1,

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WES and mutation detection rate: has something changed?

Whole exome sequencing (WES) is increasingly used in clinical practice, especially in pediatrics, to identify the cause in patients with a suspicion of genetic disease or for large studies whose purpose is to identify new disease genes. Thanks to technological advancement, lowering costs and reduction of the time required for diagnosis, massive sequencing has revolutionized

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Genetic testing and sport: can sudden death be prevented?

Anyone, supporter or not, was shocked by what happened during the Denmark-Finland match of the UEFA EURO 2020. A player from the Danish national team, Christian Eriksen, collapsed due to cardiac arrest. Timely intervention was provided first of all by his teammates and subsequently by the specialized medical team, who, thanks also to the help

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Amyloidosis

Panel testing recommended at Breda Genetics for this condition: Pan269 Hereditary Amyloidosis (APOA1, APP, B2M, CST3, GPNMB, GSN, FGA, IL31RA, ITM2B, LYZ, OSMR, PRNP, TACSTD2, TTR) Summary Amyloidoses are a group of rare disorders caused by extracellular deposition of insoluble fibers made of misfolded proteins, which take the name of “amyloid”. These deposits damage tissues and interfere

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Thalassemia

Summary Thalassemia refers to a group of hereditary quantitative hemoglobinopathies, blood disorders that derive from a quantitative reduction of the synthesis of the globin chains of hemoglobin. On the basis of the genetic defect, they are divided into alpha and beta-thalassemia and are both inherited in an autosomal recessive manner. Thalassemias have wide phenotypic variability,

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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

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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

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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

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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.

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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

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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

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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

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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,

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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

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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

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