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Editor-in-chief
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

EIC Assistant
Francesco Busardò

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


Publisher
Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Chiara Riva
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282
email: biochimica.clinica@sibioc.it

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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091



BC: Articoli scritti da R. Molinario

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
<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