Andrea Breda Klobus

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

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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

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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

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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,

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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

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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

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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

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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.  

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ACMG 2019

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L’uso dei bed file nella Next Generation Sequencing

Cosa sono i file bed? Se sei interessato, o direttamente coinvolto, in applicazioni Next Generation Sequencing per ricerca o diagnostica, in particolare per il sequenziamento dell’intero esoma o di pannelli multigene, avrai sicuramente sentito parlare dei cosiddetti bed files. Se non ne hai ancora sentito parlare, presto sentirai la necessità di sapere cosa sono e

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Esoni non-codificanti nella diagnosi di malattie rare

Esoni codificanti e non-codificanti nella struttura dei geni I geni sono la parte codificante del genoma, ma rappresentano solamente il 2% dell’intero DNA. Nonostante questo, la vasta maggioranza delle mutazioni patogene che causano malattie rare (fino all’85%) cade all’interno dei geni. I geni hanno una struttura ben definita: sono costituiti da esoni, che rappresentano la

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Codici (simboli) degli amminoacidi

Qui sotto la tabella con i codici (simboli) degli amminoacidi (a 1 o tre lettere). La nomenclatura approvata per la descrizione dei risultati di un indagine genetica è quella a tre lettere. Amminoacido Codice a una lettera Codice a tre lettere (ufficiale) Alanina A Ala Arginina R Arg Asparagina N Asn Acido aspartico D Asp

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SIMMENS 2019 – Ott 2019, Torino

Dove: Torino   When: 22-25 Ottobre 2019   Breda Genetics stand: #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

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Malattia di Niemann-Pick

Pannello Breda Genetics raccomandato per questa condizione: Malattia di Niemann-Pick (NPC1, NPC2, SMPD1) Sintesi La malattia di Niemann-Pick (NPD) è un termine generico che comprende due distinti difetti metabolici. Il primo include la NPD tipi A e B ed è dovuto alla deficienza dell’enzima sfingomielinasi acida. Il secondo, ossia la NPD di tipo C, è

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Sindrome di Noonan

Pannelli Breda Genetics raccomandati per la sindrome di Noonan: Sindrome di Noonan, LEOPARD, Costello e CFC, classico (BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1) Sindrome di Noonan, LEOPARD, Costello e CFC, esteso (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2, SHOC2, SOS1,

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