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Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada

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Giuseppe Agosta

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Andrea di Bello
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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091

Articoli con TAG: diagnostica molecolare

Glossario di biologia molecolare e biologia molecolare clinica Parte III: diagnostica molecolare
Glossary of molecular biology and clinical molecular biology. Part III: molecular diagnostics
<p>This document is the third and last section of a glossary on molecular biology. In particular, the main categories of the currently available molecular diagnostic procedures, and the related terminology, will be described herein. Based on the availability of more and more sensitive and standardized technologies for the study of DNA/RNA alterations, molecular diagnostic tests are now widely diffused in clinical laboratories, and commonly offered to patients and their families.<br />Aiming to support less experienced readers, the terms related to the main molecular diagnostic procedures and tests are included in this third part of the glossary. For each term the corresponding English version is reported (see also the complete list, both in Italian and in English alphabetical order, reported in the Appendix). In addition, for some of the terms, a link to articles already published in Biochimica Clinica, where they have been used, is reported.</p>
Biochimica Clinica ; 44(2) 174-179
Documenti - Documents
Diagnosi molecolare di primo livello nella fibrosi cistica: confronto tra tre metodiche commerciali
First-level molecular diagnosis of cystic fibrosis (CF): comparison of three commercial procedures
R. Molinario, S. Palumbo, S. Rocchetti, R. Rizza, C. Zuppi, E. Capoluongo
<p>CF is one&nbsp;of the most common life-threatening autosomal recessive disorders among Caucasians. To provide an useful CF test&nbsp;and improve the detection rate of CF mutation in the general population, the selection of a mutation panel should be&nbsp;considered for covering the population disease risk. The aim of this study was to evaluate and to compare the&nbsp;performance of 3 different analytical CF molecular assays: INNO-LiPA, NanoChip CF70 and xTAG Cystic Fibrosis.&nbsp;All 3 mutation panels showed a good detection rate in our geographical area. We analyzed 100 DNA samples with&nbsp;INNO-LiPA and NanoChip CF70; half of those samples were also analyzed with xTAG Cystic Fibrosis. All tests&nbsp;included the most frequent CF mutations along with Poly-T screening. As some discordant results were found, some&nbsp;samples were also analyzed by CFTR massive parallel sequencing (MPS) with MASTR v2 assay (Multiplicom) run&nbsp;on 454 GS Junior. INNO-LiPA and NanoChip were concordant for 99 out of 100 samples. Only one, carrying the&nbsp;852del22 mutation, resulted as discordant: MPS confirmed the &ldquo;wild type&rdquo; genotype previously obtained by&nbsp;NanoCHIP. On the contrary, in a sample genotyped by both INNO-LiPA and MPS as compound heterozygote (3272-&nbsp;26 A/G; 621+3 A/G), NanoChip only detected the 3272-26 A/G mutation. Finally, 47 out of 50 samples were correctly&nbsp;genotyped by xTAG Cystic Fibrosis.</p>
Biochimica Clinica ; 39(3) 193-198
Contributi scientifici - Scientific Papers
Il deficit di G6PD in Medicina di Laboratorio
G6PD deficiency in Laboratory Medicine
<p>Glucose 6-phosphate dehydrogenase has a key role in the production of the reducing power necessary to face oxidative stress and for providing ribose, which is a basic constituent of nucleic acids. It is therefore not surprising that the gene is present in all organisms, and that is also highly conserved during the evolution. The occurrence of G6PD mutants may have important consequences in carriers, depending on the class of the mutants, triggering events and various comorbidities. Acute and chronic hemolytic anemias are the most typical clinical hallmarks. The determination and characterization of G6PD can be achieved by qualitative tests, various quantitative catalytic activity determinations, and by molecular biology techniques. Sample collection and stability is not a critical problem, but some pre-analytical conditions in vivo(previous transfusions, recent blood losses) should be known by the laboratory before measuring G6PD. A number of quantitative methods is available and there is no consensus on the measuring temperature (30 or 37&deg;C) and on the reference ranges. The consequence is that the state-of-the-art of the various methods is variable, as clearly proven from recent EQAS analyses. Moreover, analytical goals have not been defined yet. In conclusion, we believe that this test needs better attention from laboratory professionals in order to offer an improved service to patients with G6PD deficiency anemias and related complications.</p>
Biochimica Clinica ; 44(3) 219-231
Rassegne - Reviews
Il valore aggiunto della diagnostica molecolare nelle forme monogeniche di diabete mellito
Advantages of molecular diagnosis in monogenic diabetes
<p>Maturity Onset Diabetes of the Young (MODY), the most frequent form of monogenic diabetes, comprises a group of heterogeneous disorders, characterized by non-autoimmune diabetes due to mutations of at least 14 different genes.<br />We report a case of a 38-years-old patient with non-autoimmune diabetes, where molecular analysis evidenced a large deletion on chromosome 17q12 including several genes, among them HNF1&beta; associated to MODY5. The analysis allowed us to clarify the complex phenotype of the patient including, in addition to diabetes, intellectual disability, seizures, kidney cysts and facial dimorphisms. This case shows that diabetes when caused by large deletions, can be just one of the symptoms of a &ldquo;clinical syndrome&rdquo; that includes other features due to the deletion of neighboring genes and confirms the important role of the molecular test to obtain a correct diagnosis in a patient with a suspicion of monogenic diabetes.</p>
Biochimica Clinica ; 45(1) e1-e3
Casi Clinici - Case Report