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Clinical Genomics
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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.

Genetic test for primary ciliary dyskinesia by Ambry Genetics

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.

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.

  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.
Genes analyzed
Code
Test Name
Turnaround
Genes
8122
PCDNext®
4-5 weeks
21 Genes
PCDNext®
21 Genes
ARMC4
CCDC103
CCDC114
CCDC39
CCDC40
CFTR
DNAAF1
DNAAF2
DNAAF3
DNAAF5
DNAH11
DNAH5
DNAI1
DNAI2
LRRC6
NME8
OFD1
RPGR
RSPH4A
RSPH9
SPAG1
Consent
Patient
(EN) (ES)
Understanding Your Results
Private: Primary Ciliary Dyskinesia (PCD)
(EN)
Private: Negative Primary Ciliary Dyskinesia (PCD)
(EN)
Private: Positive Primary Ciliary Dyskinesia (PCD)
(EN)
Mutation Detection Rate
60-70%
Patients
with a clinical presentation of PCD and PCD-related disorders have a detectable mutation on this panel (clinical sensitivity).1*
>99.9%
Ambry's PCDNext testing
can detect the described mutations in the included genes listed above, when present (analytic sensitivity).*

Test Description

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.

  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.