| Test Code | 8122 |
| Turnaround Time (TAT) | 4-5 weeks |
| Number of Genes | 21 |
60-70% of patients with a clinical presentation of PCD and PCD-related disorders have a detectable mutation on this panel (clinical sensitivity).1 Ambry's PCDNext testing can detect >99.9% of described mutations in the included genes listed above, when present (analytic sensitivity).
Our Primary Ciliary Dyskinesia panel includes next generation sequencing (NGS) and deletion/duplication analysis of the ARMC4, CCDC103, CCDC114, CCDC39, CCDC40, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH5, DNAH11, DNAI1, DNAI2, LRRC6, OFD1, RPGR, RSPH4A, RSPH9, SPAG1, and TXNDC3 genes. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and NGS. Additional Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. This test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis is performed using a custom pipeline based on read-depth from NGS data and/or utilizing a targeted chromosomal microarray with confirmatory MLPA when applicable.