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
CENPF 81479,81479
CFAP298 81479,81479
CFAP300 81479,81479
CFAP57 81479,81479
CFTR 81223,81479
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
HYDIN 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
STK36 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 (51)81479 81223(x1), 81479(x101) $990 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 Custom Panel tool.

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 backbone).

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

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Fang Xu, PhD, FACMG

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 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). Kartagener’s syndrome is a similar 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 use 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.

Genetics

To date, defects in over 50 genes have been reported to cause PCD, which is mostly inherited in an autosomal recessive manner (Zariwala et al. 2019. PubMed ID: 20301301). In rare cases, 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: 12872123). 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 summaries for information about 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 91.3% 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. 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).

Due to technical difficulties, only exons 1-5 and 85-86 of the HYDIN gene are included in this panel.

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 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, 42 618695
Ciliary dyskinesia, primary, 43 AD 618699
Ciliary dyskinesia, primary, 45 AR 618801
Ciliary dyskinesia, primary, 46 AR 619436
Ciliary dyskinesia, primary, 5 AR 608647
Ciliary Dyskinesia, Primary, 6 AR 610852
Ciliary Dyskinesia, Primary, 7 AR 611884
Ciliary Dyskinesia, Primary, 9 AR 612444
Cystic Fibrosis AR 219700
Infantile Nephronophthisis 602088
Joubert Syndrome 10 300804
Oral-Facial-Digital Syndrome 311200
Spermatogenic failure 27 617965
Spermatogenic failure 43 AR 618751
Spermatogenic failure 46 619095
Stromme syndrome AR 243605

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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.
  • 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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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