Diagnosi molecolare di primo livello nella fibrosi cistica: confronto tra tre metodiche commerciali

AUTORI

ABSTRACT

First-level molecular diagnosis of cystic fibrosis (CF): comparison of three commercial procedures

CF is one of the most common life-threatening autosomal recessive disorders among Caucasians. To provide an useful CF test and improve the detection rate of CF mutation in the general population, the selection of a mutation panel should be considered for covering the population disease risk. The aim of this study was to evaluate and to compare the performance of 3 different analytical CF molecular assays: INNO-LiPA, NanoChip CF70 and xTAG Cystic Fibrosis. All 3 mutation panels showed a good detection rate in our geographical area. We analyzed 100 DNA samples with INNO-LiPA and NanoChip CF70; half of those samples were also analyzed with xTAG Cystic Fibrosis. All tests included the most frequent CF mutations along with Poly-T screening. As some discordant results were found, some samples were also analyzed by CFTR massive parallel sequencing (MPS) with MASTR v2 assay (Multiplicom) run on 454 GS Junior. INNO-LiPA and NanoChip were concordant for 99 out of 100 samples. Only one, carrying the 852del22 mutation, resulted as discordant: MPS confirmed the “wild type” genotype previously obtained by NanoCHIP. On the contrary, in a sample genotyped by both INNO-LiPA and MPS as compound heterozygote (3272- 26 A/G; 621+3 A/G), NanoChip only detected the 3272-26 A/G mutation. Finally, 47 out of 50 samples were correctly genotyped by xTAG Cystic Fibrosis.

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