Primary ciliary dyskinesia (PCD)

Primary ciliary dyskinesia (PCD) is a disorder of the lungs and other body systems.  It affects an estimated 25,000 Americans of all ethnic backgrounds, many of whom remain undiagnosed.  Early diagnosis is instrumental in maintaining well-being and reducing long-term health problems. 

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Test Code 8122
Turnaround Time (TAT) 4-5 weeks
Number of Genes 21
Specimen Requirements Click here

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Mutation Detection Rate

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).

Test Description

Our Primary ciliary dyskinesia genetic testing 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. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.16This 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 utilizing a targeted chromosomal microarray.

 

  1. Duriez B, et al. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc Natl Acad Sci USA. 2007 Feb 27;104(9):3336-41.
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