An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia

摘要: Summary Background Primary ciliary dyskinesia (PCD) is a multigenic autosomal recessive condition affecting respiratory tract and other organs where motility required. The extent of its genetic heterogeneity remarkable. aim the study was to develop cost-effective pipeline for diagnostics using combination Sanger next generation sequencing (NGS). Materials Methods Data samples 33 families with 38 affected subjects PCD diagnosed in childhood were collected over territory Czech Republic. A panel 18 causative or candidate genes implemented into an Illumina TruSeq Custom Amplicon NGS assay, three ancestral mutations SPAG1 screened by conventional sequencing, which also used confirmation results analysis familial segregation. Results The gene DNAH5 11/33 (33%) probands, 8/33 (24%), DNAI1, CCDC40, LRRC6 one family each. If high proportion bi-allelic corroborated Caucasian populations, simple test these may serve as effective pre-screening step, being followed other, much larger, genes. Conclusions We present known genes, moderate-size national collection patients. This strategy has proven be cost-effective, rapid reliable, able detect two thirds our Pediatr Pulmonol. © 2015 Wiley Periodicals, Inc.