Primary Ciliary Dyskinesia Panel

SEQmethod-seq-icon Our Sequence Analysis is based on a proprietary targeted sequencing method OS-Seq™ and offers panels targeted for genes associated with certain phenotypes. A standard way to analyze NGS data for finding the genetic cause for Mendelian disorders. Results in 21 days. DEL/DUPmethod-dup-icon Targeted Del/Dup (CNV) analysis is used to detect bigger disease causing deletions or duplications from the disease-associated genes. Results in 21 days. PLUSmethod-plus-icon Plus Analysis combines Sequence + Del/Dup (CNV) Analysis providing increased diagnostic yield in certain clinical conditions, where the underlying genetic defect may be detectable by either of the analysis methods. Results in 21 days.

Test code: KI1201

The Blueprint Genetics Primary Ciliary Dyskinesia Panel is a 32 gene test for genetic diagnostics of patients with clinical suspicion of cystic fibrosis, infertility, other specified congenital malformations of respiratory system or primary ciliary dyskinesia.

The panel covers genes associated with autosomal recessive, autosomal dominant and X-linked forms of the disease and related disorders. This Panel is part of the comprehensive Ciliopathy Panel.

About Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a disorder characterized by chronic respiratory tract infections, situs abnormalities (situs ambiguous and situs inversus) and sometimes infertility due to abnormal sperm motility. The signs and symptoms of this condition are caused by abnormal cilia. Affected patients may develop signs of PCD at birth or within the first few months of life but the symptoms and disease onset vary depending on underlying genetic defect. Most full-term neonates have respiratory distress with tachypnea (infant acute respiratory distress syndrome). The usual findings in infants and children are daily rhinitis, and daily year-round wet cough occurring soon after birth, with associated recurrent or chronic infections of the lower airways. Patient’s with PCD, especially young children, may also experience recurrent ear infections (otitis media). Primary ciliary dyskinesia occurs in approximately 1 in 16:000 individuals, estimated incidence of live births is 1:15,000-1:30,000. The total number of individuals with PCD in the United States is estimated at 12,000 to 17,000. PCD has an estimated incidence of 1:15,000-1:30,000 live births, but this is probably an underestimate. Prevalence is difficult to determine and the incidence may be especially high in population isolates with a high rate of consanguinity. The Primary Ciliary Dyskinesia Panel includes also CF, which is characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. CF is caused by mutations in the CFTR gene. The disease is chronic and generally progressive, with onset usually occurring during early childhood.


Results in 3-4 weeks.

Genes in the Primary Ciliary Dyskinesia Panel and their clinical significance
GeneAssociated phenotypesInheritanceClinVarHGMD
ARMC4*Ciliary dyskinesiaAR1215
C21ORF59Ciliary dyskinesiaAR3
CCDC39Ciliary dyskinesiaAR1338
CCDC40Ciliary dyskinesiaAR1531
CCDC65Ciliary dyskinesiaAR21
CCDC103Ciliary dyskinesiaAR24
CCDC114Ciliary dyskinesiaAR57
CCNOCiliary dyskinesiaAR79
CFTRCystic fibrosisAR3661767
DNAAF1Ciliary dyskinesiaAR828
DNAAF2Ciliary dyskinesiaAR43
DNAAF3Primary ciliary dyskinesiaAD/AR33
DNAAF5Ciliary dyskinesiaAR22
DNAH5Ciliary dyskinesiaAR36135
DNAH11*Ciliary dyskinesiaAR2590
DNAI1Ciliary dyskinesiaAR1028
DNAI2Ciliary dyskinesiaAR76
DNAL1Ciliary dyskinesiaAR31
DRC1Primary ciliary dyskinesiaAD/AR32
DYX1C1Ciliary dyskinesiaAR617
HYDIN*Primary ciliary dyskinesiaAD/AR313
LRRC6Ciliary dyskinesiaAR814
NME8Ciliary dyskinesiaAR16
OFD1Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndromeXL129148
RPGRRetinitis pigmentosaXL41184
RSPH1Ciliary dyskinesiaAR910
RSPH4ACiliary dyskinesiaAR721
RSPH9Ciliary dyskinesiaAR211
SPAG1Primary ciliary dyskinesiaAD/AR710
ZMYND10Ciliary dyskinesiaAR616
  • * Some regions of the gene are duplicated in the genome leading to limited sensitivity within the regions. Thus, low-quality variants are filtered out from the duplicated regions and only high-quality variants confirmed by other methods are reported out. Read more.

Gene, refers to HGNC approved gene symbol; Inheritance to inheritance patterns such as autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL); ClinVar, refers to a number of variants in the gene classified as pathogenic or likely pathogenic in ClinVar (; HGMD, refers to a number of variants with possible disease association in the gene listed in Human Gene Mutation Database (HGMD, The list of associated (gene specific) phenotypes are generated from CDG ( or Orphanet ( databases.

Blueprint Genetics offers a comprehensive primary ciliary dyskinesia panel that covers classical genes associated with cystic fibrosis, infertility, other specified congenital malformations of respiratory system, primary ciliary dyskinesia and situs inversus. The genes are carefully selected based on the existing scientific evidence, our experience and most current mutation databases. Candidate genes are excluded from this first-line diagnostic test. The test does not recognise balanced translocations or complex inversions, and it may not detect low-level mosaicism. The test should not be used for analysis of sequence repeats or for diagnosis of disorders caused by mutations in the mitochondrial DNA.

Please see our latest validation report showing sensitivity and specificity for SNPs and indels, sequencing depth, % of the nucleotides reached at least 15x coverage etc. If the Panel is not present in the report, data will be published when the Panel becomes available for ordering. Analytical validation is a continuous process at Blueprint Genetics. Our mission is to improve the quality of the sequencing process and each modification is followed by our standardized validation process. All the Panels available for ordering have sensitivity and specificity higher than > 0.99 to detect single nucleotide polymorphisms and a high sensitivity for indels ranging 1-19 bp. The diagnostic yield varies substantially depending on the used assay, referring healthcare professional, hospital and country. Blueprint Genetics’ Plus Analysis (Seq+Del/Dup) maximizes the chance to find molecular genetic diagnosis for your patient although Sequence Analysis or Del/Dup Analysis may be cost-effective first line test if your patient’s phenotype is suggestive for a specific mutation profile. Detection limit for Del/Dup analysis varies through the genome from one to six exon Del/Dups depending on exon size, sequencing coverage and sequence content.

The sequencing data generated in our laboratory is analyzed with our proprietary data analysis and annotation pipeline, integrating state-of-the art algorithms and industry-standard software solutions. Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. The highest relevance in the reported variants is achieved through elimination of false positive findings based on variability data for thousands of publicly available human reference sequences and validation against our in-house curated mutation database as well as the most current and relevant human mutation databases. Reference databases currently used are the 1000 Genomes Project (, the NHLBI GO Exome Sequencing Project (ESP;, the Exome Aggregation Consortium (ExAC;, ClinVar database of genotype-phenotype associations ( and the Human Gene Mutation Database ( The consequence of variants in coding and splice regions are estimated using the following in silico variant prediction tools: SIFT (, Polyphen (, and Mutation Taster (

Through our online ordering and statement reporting system, Nucleus, the customer can access specific details of the analysis of the patient. This includes coverage and quality specifications and other relevant information on the analysis. This represents our mission to build fully transparent diagnostics where the customer gains easy access to crucial details of the analysis process.

In addition to our cutting-edge patented sequencing technology and proprietary bioinformatics pipeline, we also provide the customers with the best-informed clinical report on the market. Clinical interpretation requires fundamental clinical and genetic understanding. At Blueprint Genetics our geneticists and clinicians, who together evaluate the results from the sequence analysis pipeline in the context of phenotype information provided in the requisition form, prepare the clinical statement. Our goal is to provide clinically meaningful statements that are understandable for all medical professionals, even without training in genetics.

Variants reported in the statement are always classified using the Blueprint Genetics Variant Classification Scheme modified from the ACMG guidelines (Richards et al. 2015), which has been developed by evaluating existing literature, databases and with thousands of clinical cases analyzed in our laboratory. Variant classification forms the corner stone of clinical interpretation and following patient management decisions. Our statement also includes allele frequencies in reference populations and in silico predictions. We also provide PubMed IDs to the articles or submission numbers to public databases that have been used in the interpretation of the detected variants. In our conclusion, we summarize all the existing information and provide our rationale for the classification of the variant.

A final component of the analysis is the Sanger confirmation of the variants classified as likely pathogenic or pathogenic. This does not only bring confidence to the results obtained by our NGS solution but establishes the mutation specific test for family members. Sanger sequencing is also used occasionally with other variants reported in the statement. In the case of variant of uncertain significance (VUS) we do not recommend risk stratification based on the genetic finding. Furthermore, in the case VUS we do not recommend use of genetic information in patient management or genetic counseling. For some cases Blueprint Genetics offers a special free of charge service to investigate the role of identified VUS.

We constantly follow genetic literature adapting new relevant information and findings to our diagnostics. Relevant novel discoveries can be rapidly translated and adopted into our diagnostics without delay. These processes ensure that our diagnostic panels and clinical statements remain the most up-to-date on the market.

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ICD & CPT codes

CPT codes


ICD codes

Commonly used ICD-10 codes when ordering the Primary Ciliary Dyskinesia Panel

Q34.8Primary ciliary dyskinesia
Q34.8Other specified congenital malformations of respiratory system
E84.1, E84.8, E84.9Cystic fibrosis

Accepted sample types

  • EDTA blood, min. 1 ml
  • Purified DNA, min. 5μg
  • Saliva (Oragene DNA OG-500 kit)

Label the sample tube with your patient’s name, date of birth and the date of sample collection.

Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue.