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Primary Ciliary Dyskinesia (PCD) via the DNAH11 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
DNAH11 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11243DNAH1181479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Primary Ciliary Dyskinesia (PCD) is a genetic disorder affecting the function of motile cilia (Leigh et al. 2009). The hallmark features of PCD are neonatal respiratory distress, chronic coughing, and recurrent sinus and/or ear infections; 80-100% of all PCD patients have one or more of these symptoms. In 20-50% of individuals with PCD, the major visceral organs are reversed from their normal positions (also called situs inversus) (Sutherland and Ware 2009). Kartagener’s syndrome is a condition defined by the symptomatic triad of situs inversus, sinusitis and bronchiectasis. Patients with PCD can also have abnormal orientation of some organs but not others (a condition called situs ambiguus or heterotaxy) (Kennedy et al. 2007). For more information, see GeneReviews.


Primary Ciliary Dyskinesia is inherited most commonly in an autosomal recessive manner due to defects in motile cilia. To date, defects in at least 30 genes, including DNAH11, have been reported to cause PCD (Bartoloni et al. 2002; Schwabe et al. 2008). Cilia in the respiratory tract, brain and sperm flagella consist of nine peripheral microtubule doublets surrounding two central microtubules; nodal cilia in the embryo lack the central microtubules (Ferkol and Leigh 2006). All motile cilia have both inner and outer dynein arms attached at regular intervals to the peripheral microtubule doublets. The dynein arms consist of heavy, intermediate, and light dynein chains, and serve as molecular motors that drive microtubule sliding. Most frequently, patients with PCD have structural defects in the outer dynein arms (ODA), rendering the cilia immotile and non-functional. DNAH11 is a large gene comprising 82 exons and over 4500 amino acids, encoding for the dynein arm heavy chain. A mix of single nucleotide substitutions and small insertions/deletions have been described; most pathogenic variants result in premature protein termination (i.e. nonsense, frameshift, splicing), but a handful of missense variants located in conserved domains also cause PCD and possibly Asthenozoospermia (Zuccarello et al. 2008; Schwabe et al. 2008; Pifferi et al. 2010, Knowles et al. 2012; Lucas et al. 2014; Boon et al. 2014). Undocumented and rare (allele frequency <1%) missense variants in DNAH11 are commonly found in presumably healthy individuals, making interpretation of rare missense variants difficult (1000genomes.org; ncbi.nlm.nih.gov/SNP; evs.gs.washington.edu/EVS). Interestingly, unlike with mutations in other dynein chains (i.e. DNAH5, DNAI1, and DNAI2), mutations in DNAH11 only affect the beating frequency of the cilia, not the visible structure of the inner or outer dynein arms (Knowles et al. 2012; Boon et al. 2014).

Clinical Sensitivity - Sequencing with CNV PGxome

This test is predicted to detect biallelic pathogenic variants in DNAH11 in 22% of PCD individuals without ciliary ultrastructural defects (Knowles et al. 2012). Approximately 33% of individuals with PCD did not have ciliary ultrastructural defects by transmission electron microscopy (Boon et al. 2014). Taken together, we estimate that ~7% of all PCD patients will be found to have biallelic pathogenic variants in DNAH11.

To our knowledge, no gross deletions in DNAH11 have been reported in the literature. We have detected one gross duplication and one gross deletion in DNAH11 by our gene-centric aCGH test at Prevention Genetics. Clinical sensitivity cannot be estimated precisely, but is expected to be low because only a small number of patients with copy number variants have been found.

Testing Strategy

This test provides full coverage of all coding exons of the DNAH11 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

This test is for patients with PCD, with or without situ abnormalities, and normal axonemal ultrastructure. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DNAH11.


Official Gene Symbol OMIM ID
DNAH11 603339
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Ciliary Dyskinesia, Primary, 7 AR 611884


  • Bartoloni L, Blouin J-L, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE. 2002. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proceedings of the National Academy of Sciences 99: 1028210286. PubMed ID: 12142464
  • Boon M, Smits A, Cuppens H, Jaspers M, Proesmans M, Dupont LJ, Vermeulen FL, Daele S Van, Malfroot A, Godding V, Jorissen M, De Boeck K. 2014. Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. Orphanet J Rare Dis 9:11. PubMed ID: 24450482
  • Ferkol and Leigh 2006. PubMed ID: 17142159
  • Kennedy. et al. 2007. PubMed ID: 17515466
  • Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. 2012. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax 67: 433441. PubMed ID: 22184204
  • Leigh M.W. et al. 2009. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 11: 473-87. PubMed ID: 19606528
  • Lucas JS, Adam EC, Goggin PM, Jackson CL, Powles-Glover N, Patel SH, Humphreys J, Fray MD, Falconnet E, Blouin J-L, Cheeseman MT, Bartoloni L, et al. 2012. Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD. Human Mutation 33: 495503. PubMed ID: 22102620
  • Pifferi M, Michelucci A, Conidi ME, Cangiotti AM, Simi P, Macchia P, Boner AL. 2010. New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. Eur. Respir. J. 35: 14131416. PubMed ID: 20513915
  • Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, Santi MM de, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, Niggemann B, Omran H, Antonarakis SE, Bartoloni L. 2008. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Human Mutation 29: 289298. PubMed ID: 18022865
  • Sutherland and Ware. 2009. PubMed ID: 19876930
  • Zariwala et al. 2019. PubMed ID: 20301301
  • Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A, Moretti A, Cordeschi G, Francavilla S, Foresta C. 2008. Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. Human Reproduction 23: 19571962. PubMed ID: 18492703


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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