Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10415 AK7 81479,81479 Order Options and Pricing
CCDC103 81479,81479
CCDC39 81479,81479
CCDC40 81479,81479
CCDC65 81479,81479
CCNO 81479,81479
CFAP298 81479,81479
CFAP300 81479,81479
CFTR 81223,81222
DNAAF1 81479,81479
DNAAF11 81479,81479
DNAAF2 81479,81479
DNAAF3 81479,81479
DNAAF4 81479,81479
DNAAF5 81479,81479
DNAAF6 81479,81479
DNAH1 81479,81479
DNAH11 81479,81479
DNAH5 81479,81479
DNAH8 81479,81479
DNAH9 81479,81479
DNAI1 81479,81479
DNAI2 81479,81479
DNAJB13 81479,81479
DNAL1 81479,81479
DRC1 81479,81479
FOXJ1 81479,81479
GAS2L2 81479,81479
GAS8 81479,81479
INVS 81479,81479
LRRC56 81479,81479
MCIDAS 81479,81479
NME8 81479,81479
ODAD1 81479,81479
ODAD2 81479,81479
ODAD3 81479,81479
ODAD4 81479,81479
OFD1 81479,81479
RPGR 81479,81479
RSPH1 81479,81479
RSPH3 81479,81479
RSPH4A 81479,81479
RSPH9 81479,81479
SPAG1 81479,81479
SPEF2 81479,81479
TTC12 81479,81479
ZMYND10 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10415Genes x (47)81479 81222, 81223, 81479 $930 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

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

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Primary Ciliary Dyskinesia (PCD) is a genetic disorder affecting the function of motile cilia with an incidence of 1 in 16,000 individuals (Leigh et al. 2009. PubMed ID: 19606528). 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. PubMed ID: 19876930). The similar 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 ambiguous or heterotaxy) (Kennedy et al. 2007. PubMed ID: 17515466). For more information, see GeneReviews (Zariwala et al. 2019. PubMed ID: 20301301).

The majority of PCD patients have neonatal symptoms and around half have situs inversus but, despite these signs, diagnosis is often delayed (Collins et al. 2014. PubMed ID: 26237387). This prevents early onset of regular airway clearance therapy, aggressive management of infections, monitoring and treatment of hearing impairment and genetic counselling for the family. Genetic testing is helpful in identifying patients that need functional assessment and improving the diagnostic process, thus the need to diagnose patients at an early age.

Genetics

To date, defects in over 45 genes have been reported to cause PCD, which is mostly inherited in an autosomal recessive manner (Zariwala et al. 2019. PubMed ID: 20301301). Rarely, PCD has been found to be inherited in X-linked or autosomal dominant manners due to loss-of-function variants in OFD1, RPGR, DNAAF6/PIH1D3, and FOXJ1 (Budny et al. 2006. PubMed ID: 16783569; Moore et al 2006. PubMed ID: 16055928; Olcese et al. 2017. PubMed ID: 28176794; Wallmeier. 2019. PubMed ID: 31630787). De novo variants have been reported in the FOXJ1 gene (Wallmeier. 2019. PubMed ID: 31630787). Copy number variants have been documented in the ODAD2/ARMC4CCDC40CFTRDNAAF1DNAAF2DNAH11DNAH5DNAAF4, SPAG1OFD1DNAAF6RPGR, and ZMYND10 genes (Human Gene Mutation Database). In addition, the INVS/NPHP2 gene has been associated with situs inversus either with or without biliary complications (Schön et al. 2002. PubMed ID: 11935322; Otto et al. 2003. PubMed ID: 1282123). Symptoms of cystic fibrosis can sometimes mimic those of PCD. 

PCD is caused by defects in motile cilia. 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. PubMed ID: 17142159). 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, rendering the cilia immotile and non-functional.

See individual gene test descriptions for information on molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity is ~80% (Zariwala et al. 2019. PubMed ID: 20301301).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.2% coverage of all coding exons of the genes 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 coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

This test is for patients with symptoms of respiratory distress (chronic coughing, recurrent sinusitis, bronchiectasis), with or without situs inversus. For patients with laterality defects (Heterotaxy, Situs Inversus, Situs ambiguous), but no overt symptoms of respiratory distress, see the Heterotaxy, Situs Inverus and Kartagener's Syndrome Panel.

Diseases

Name Inheritance OMIM ID
Ciliary Dyskinesia, Primary, 1 AR 244400
Ciliary Dyskinesia, Primary, 10 AR 612518
Ciliary Dyskinesia, Primary, 11 AR 612649
Ciliary Dyskinesia, Primary, 12 AR 612650
Ciliary Dyskinesia, Primary, 13 AR 613193
Ciliary Dyskinesia, Primary, 14 AR 613807
Ciliary Dyskinesia, Primary, 15 AR 613808
Ciliary Dyskinesia, Primary, 16 AR 614017
Ciliary Dyskinesia, Primary, 17 AR 614679
Ciliary Dyskinesia, Primary, 18 AR 614874
Ciliary Dyskinesia, Primary, 19 AR 614935
Ciliary Dyskinesia, Primary, 2 AR 606763
Ciliary Dyskinesia, Primary, 20 AR 615067
Ciliary Dyskinesia, Primary, 21 AR 615294
Ciliary Dyskinesia, Primary, 22 AR 615444
Ciliary Dyskinesia, Primary, 23 AR 615451
Ciliary Dyskinesia, Primary, 24 AR 615481
Ciliary Dyskinesia, Primary, 25 AR 615482
Ciliary Dyskinesia, Primary, 26 AR 615500
Ciliary Dyskinesia, Primary, 27 AR 615504
Ciliary Dyskinesia, Primary, 28 AR 615505
Ciliary Dyskinesia, primary, 29 AR 615872
Ciliary Dyskinesia, Primary, 3 AR 608644
Ciliary Dyskinesia, Primary, 30 AR 616037
Ciliary Dyskinesia, Primary, 32 AR 616481
Ciliary Dyskinesia, Primary, 33 AR 616726
Ciliary Dyskinesia, Primary, 34 AR 617091
Ciliary Dyskinesia, Primary, 35 AR 617092
Ciliary Dyskinesia, Primary, 36 XL 300991
Ciliary Dyskinesia, Primary, 37 AR 617577
Ciliary dyskinesia, primary, 38 AR 618063
Ciliary dyskinesia, primary, 39 AR 618254
Ciliary dyskinesia, primary, 40 AR 618300
Ciliary dyskinesia, primary, 41 AR 618449
Ciliary dyskinesia, primary, 43 AD 618699
Ciliary dyskinesia, primary, 45 AR 618801
Ciliary Dyskinesia, Primary, 6 AR 610852
Ciliary Dyskinesia, Primary, 7 AR 611884
Ciliary Dyskinesia, Primary, 9 AR 612444
Cystic Fibrosis AR 219700
Spermatogenic failure 43 AR 618751

Related Test

Name
PGxome®
Ciliopathy Panel

Citations

  • Budny et al. 2006. PubMed ID: 16783569
  • Collins et al. 2014. PubMed ID: 26237387
  • Ferkol and Leigh 2006. PubMed ID: 17142159
  • Human Gene Mutation Database (Bio-base).
  • Kennedy. et al. 2007. PubMed ID: 17515466
  • Leigh et al. 2009. PubMed ID: 19606528
  • Moore et al. 2006. PubMed ID: 16055928
  • Olcese et al. 2017. PubMed ID: 28176794
  • Otto et al. 2003. PubMed ID: 12872123
  • Schön et al. 2002. PubMed ID: 11935322
  • Sutherland and Ware. 2009. PubMed ID: 19876930
  • Wallmeier et al. 2019. PubMed ID: 31630787
  • Zariwala et al. 2019. PubMed ID: 20301301

Ordering/Specimens

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.

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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