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List of genes (Whole Exome Sequencing)

This is the list of genes included in Whole Exome Sequencing (all 20,000 human genes). Some genes or portion of genes may not appear under the name you are looking for due to the different nomenclature used. Ask us for more details. A1BG CRNKL1 HOXA-AS3 NPTX1 SERPINA3 A1BG-AS1 CRNN HOXB1 NPTX2 SERPINA4 A1CF CROCC HOXB13 NPTXR SERPINA5 A2M CROCCP2 HOXB2 NPVF SERPINA6 A2M-AS1 CROCCP3 HOXB3

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DECIPHER-ing pathological genomic imbalances with DECIPHER

At the opposite site of DGV (the Database of Genomic Variants, which contains only not pathogenic variations), there is DECIPHER, a useful database to retrieve pathogenic and plausibly pathogenic structural variations in humans. Completely free DECIPHER is an open-source database which contains data about a large amount of submicroscopic structural DNA variations (microdeletions, microduplications and other rearrangements) which have been detected in about 25,000 affected humans.

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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. Women with PCOS may fail to regularly release eggs. The

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WES in NICU (Neonatal Intensive Care Unit)

Newborns in NICU Critically ill newborns are usually admitted to the Neonatal Intensive Care Unit (NICU) departments. Because a critically ill newborn is often affected by a genetic disorder, trials have been made to measure the effectiveness and usefulness of rapid (or ultra-rapid) genetic testing in this special set of patients. Certain studies have also included patients admitted to Pediatric Intensive Care Unit (PICU) departments.

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WES in FUO

What is FUO? FUO is acronym for Fever of Unknown Origin. FUO has been first defined by Petersdorf and Beeson in 1961 as a fever lasting more than 3 weeks, with a temperature over 38.3 °C on several occasions. FUO still represents a challlenge for Diagnostics in several clinical cases. Apart from infective, autoimmune and other frequent cases, FUO may actually be genetic as well! 

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Autism: genetic or not genetic?

Definition of Autism and Autism Spectrum Disorders (ASD) Autism is a neurodevelopmental disease, characterized by early childhood-onset impairments in communication and social interaction alongside restricted and repetitive behaviors and interests. In 2013, according to the criteria from the 5th version of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V), the American Psychiatric Association has re-classified autism under the official umbrella term ‘autism spectrum disorder’

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Genetic stroke syndromes

Panel testing recommended at Breda Genetics for this condition: Pan272 – Genetic stroke syndromes (ACTA2, ACVRL1, ADA2, APP, COL3A1, COL4A1, CST3, ENG, EPHB4, FBN1, GDF2, GLA, GUCY1A3, HBB, HTRA1, ITM2B, NOTCH3, RASA1, RNF213, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TREX1, mtDNA) Summary Cerebral stroke is a major cause or morbity and moratility. In most cases, stroke is a result of multifactorial interactions and is not

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Expanded Carrier Screening

Every person is a carrier of AR/XLR mutations Pathogenic mutations causing autosomal recessive (AR) and X-linked recessive (XLR) genetic diseases are rare, but each of us is a healthy carrier of at least 5 AR/XLR conditions, according to estimates. So, we are all potentially exposed to specific reproductive risks for rare disorders, although such risks depends on the genetic status of our partner. Basically two

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Cerebral cavernous malformations

Summary Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord. They are formed by closely clustered, enlarged capillary channels (so called “caverns”) consituted by a single layer of endothelium, which is abnrormally thin. The vessels are filled with slow-moving or stagnant blood that is usually clotted or in a state of decomposition. The diameter of CCMs ranges from a few millimeters

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Deep intronic mutations

Definition Deep intronic variants are those genetic variants  falling more than 100bp away from the closest exon-intron boundary. Of course, like all other type of variants, deep intronic variants may be be pathogenic, but their pathogenicity is hard to be confirmed. They can be considered as the ‘dark side’ of the mutational spectrum of a gene, because they’re (1) hard to be identified and (2)

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Pseudogenes

Definition In most cases, a pseudogene can be considered as the ancient extra copy of a preexisting protein-coding gene (called parental gene), that undergoes a process of pseudogenization by disruption to its sequence due to accumulation of deleterious mutations. The result is usually a ‘nonfunctional gene’ with high sequence homology with the parental gene.   Classification Pseudogenes can be classified according to their origin: 1)

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Assisted Reproductive Technology (ART) and neurodevelopmental disorders: is there an association?

Another hot question for Geneticists, Andrologists and Gynecologists: does Assisted Reproductive Technology (ART) increase the risk for neurodevelopmental disorders in newborns? The common conception is that, especially when doing Intra-Cytoplasmic Sperm Injection (ICSI), the natural barriers are skipped by the technology and abnormal germline cells (sperm or oocytes) that would be normally depleted, for instance because of a genetic abnormality, may be picked up for

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Genetic testing in recurrent pregnancy loss: when and which

Recurrent pregnancy loss (RPL): definition and causes Of all the clinically recognized pregnancies, about 15% end in a miscarriage, making this event one of the most common adverse events. Unfortunately, about 2-5% of couples take on recurrent pregnancy loss (RPL). However, “Recurrent pregnancy loss” definition, which according to the European Society of Human Reproduction and Embryology is the presence of two or more consecutive or

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Sequencing machines: Roche 454

The first NGS platform Talking about the system of the Roche 454 means starting from the dawn of Next Generation Sequencing. The first three Next Generation Sequencing (NGS) platforms were produced by three independent companies which, a little later, were acquired by other industrial groups. System 454 is based on pyrosequencing, a technique based on the incorporation of pyrophosphates during the reaction of chain elongation.

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Genomic imprinting: 10 questions and 10 answers

An epigenetic event Genomic imprinting, although very studied, has many dark sides, even among healthcare professionals. Here are 10 frequently asked questions with relative answers on this phenomenon. 1. What is genomic imprinting? Genomic imprinting is an epigenetic process that modifies the DNA molecule without changing its nucleotide sequence. Regulator mechanisms of imprinting are not completely known, but it is proven that it is linked

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Autosomal dominant inheritance

From parent to child Autosomal dominant inheritance happens when a genetic disorder is caused by a mutation in only one of the two copies of a gene (the paternal or the maternal one). In autosomal dominant inheritance, the disorder is transmitted from the parent to the offspring, but the parents can sometimes be clinically healthy (as in the case with de novo mutations or incomplete

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Mitochondrial genome

Only 37 genes Mitochondrial genome is contained in mitochondria, organelles responsible for cellular respiration. It is a small circular molecule present in a high number of copies. Mitochondrial genome has only 37 genes: 24 encode for transfer-RNA (tRNA) and ribosomal RNA (rRNA), while the other 13 genes are protein-coding. About 93% of mitochondrial DNA sequence is coding, as opposed to nuclear DNA, in which only

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Mitochondrial inheritance

mtDNA mutations Genetic disorders with mitochondrial inheritance are those caused by mutations in the mitochondrial DNA. Mitochondrial DNA (often shorten to mtDNA) is contained in mitochondria, which are small organelles whose task is cellular respiration. An unknown number of chromosomes Mitochondrial DNA is made of many small circular double-stranded DNA molecules, called mitochondrial chromosomes (if you want to learn more, read the page on the

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Inherited, genetic and congenital disorders

What’s the difference? Which is the difference between inherited, genetic and congenital disorders? We often hear about hereditary and/or genetic and/or congenital disorders. Unfortunately, these terms are often confused or, even worse, used interchangeably. A hereditary disorder is certainly genetic: indeed, it can be defined as a disease caused by a genetic mutation that has been transmitted from parents to the offspring. Instead, “congenital” refers

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