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Heterotaxy, Situs Inversus and Kartagener's Syndrome Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10405 ACVR2B 81479,81479 Order Options and Pricing
AK7 81479,81479
ANKS6 81479,81479
CCDC103 81479,81479
CCDC39 81479,81479
CCDC40 81479,81479
CFAP298 81479,81479
CFAP300 81479,81479
CFAP53 81479,81479
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
DNAH6 81479,81479
DNAH9 81479,81479
DNAI1 81479,81479
DNAI2 81479,81479
DNAL1 81479,81479
FOXH1 81479,81479
FOXJ1 81479,81479
GAS2L2 81479,81479
GAS8 81479,81479
GDF1 81479,81479
HYDIN 81479,81479
INVS 81479,81479
LEFTY2 81479,81479
LRRC56 81479,81479
MMP21 81479,81479
NKX2-5 81479,81479
NME8 81479,81479
NODAL 81479,81479
ODAD1 81479,81479
ODAD2 81479,81479
ODAD3 81479,81479
ODAD4 81479,81479
OFD1 81479,81479
PKD1L1 81479,81479
SMAD2 81479,81479
SPAG1 81479,81479
TTC12 81479,81479
ZIC3 81479,81479
ZMYND10 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10405Genes x (48)81479 81479(x96) $890 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.

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 genetically heterogeneous disorder affecting the function of motile cilia (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 40-50% 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; Zariwala et al. 2019. PubMed ID: 20301301). 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. PubMed ID: 17515466). Heterotaxy syndrome results from a failure to properly establish left-right asymmetry during embryogenesis. This results in an abnormal arrangement of thoracic or abdominal visceral organs or both, including the heart, lungs, liver, spleen, intestines, and stomach. Affected patients frequently have significant morbidity and mortality due to a wide variety of cyanotic congenital heart defects. Aside from cardiac malformations, common defects include asplenia or polysplenia, left-sided liver, right-sided stomach, gastrointestinal malrotation, and altered lung lobation. Classic heterotaxy, cardiac malformations and visceral laterality defects, has an estimated prevalence of 1 in 10,000 live births (Lin et al. 2000. PubMed ID: 11256661).

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 at an early age is helpful in all these respects.

Genetics

Both PCD and heterotaxy are genetically heterogeneous. PCD can be caused by pathogenic variants in at least 50 genes, and heterotaxy is caused by pathogenic variants in at least 40 genes (Zariwala et al. 2019. PubMed ID: 20301301). In addition, the INVS/NPHP2 and ANKS6 genes have been associated with situs inversus or heterotaxy, either with or without biliary complications (Schön et al. 2002. PubMed ID: 11935322; Otto et al. 2003. PubMed ID: 12872123; Hoff et al. 2013. PubMed ID: 23793029). Thus, a common thread among all these genes is the association of laterality defects.

ACVR2BFOXH1LEFTY2NKX2-5, and NODAL are associated with autosomal dominant laterality defects, PKD1L1 and DNAH6 are associated with autosomal recessive laterality defects, FOXJ1, DNAAF6/PIH1D3, and ZIC3 are associated with X-linked or autosomal dominant PCD and heterotaxy, and AK7, ODAD2/ARMC4ANKS6, CCDC103, ODAD1/CCDC114, CCDC39CCDC40, ODAD3/CCDC151CFAP300, CFAP53, CFAP298, DNAAF1DNAAF2DNAAF3DNAAF5 (HEATR2), DNAH1, DNAI1DNAI2DNAH5DNAH9, DNAH11DNAL1, DNAAF4 (previously called DYX1C1), GAS2L2, GAS8, HYDIN, INVS, LRRC6, LRRC56, MMP21, NME8, SPAG1, TTC12, ODAD4/TTC25, and ZMYND10 are associated with autosomal recessive PCD with or without laterality defects. SMAD2 is associated with autosomal dominant congenital heart defects with or without heterotaxy. Heterozygous nonsense and missense variants in GDF1 were identified in individuals with conotruncal heart defects (TOF, DORV, TGA) without visceral laterality defects (Karkera et al. 2007. PubMed ID: 17924340). Two truncating variants in GDF1 were found to cause classic heterotaxy in one Finnish family. Heterozygous carriers were asymptomatic (Kaasinen et al. 2010. PubMed ID: 20413652). De novo variants have been reported in the FOXJ1DNAAF6 and ZIC3 (Wallmeier. 2019. PubMed ID: 31630787; Paff et al. 2017. PubMed ID: 28041644; Wessels et al. 2010. PubMed ID: 20452998). Copy number variants have been documented in the ODAD2CCDC40DNAAF1DNAAF2DNAH11DNAH5DNAAF4, LEFTY2, NKX2-5, NODAL, SPAG1OFD1DNAAF6, ZIC3, and ZMYND10 genes (Human Gene Mutation Database).

See individual gene summaries for information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Congenital heart defects and heterotaxy are clinically and genetically heterogeneous. Clinical sensitivity for the primary ciliary dyskinesia portion of this test has been reported to be ~80% (Zariwala et al. 2019. PubMed ID: 20301301). Clinical sensitivity for the entire test is unknown at this time.

Testing Strategy

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

This panel typically provides 91% 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.

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 heterotaxy, situs inversus, and Kartagener's syndrome.

Diseases

Name Inheritance OMIM ID
Ciliary Dyskinesia, Primary, 1 AR 244400
Ciliary Dyskinesia, Primary, 10 AR 612518
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, 22 AR 615444
Ciliary Dyskinesia, Primary, 23 AR 615451
Ciliary Dyskinesia, Primary, 25 AR 615482
Ciliary Dyskinesia, Primary, 26 AR 615500
Ciliary Dyskinesia, Primary, 28 AR 615505
Ciliary Dyskinesia, Primary, 3 AR 608644
Ciliary Dyskinesia, Primary, 30 AR 616037
Ciliary Dyskinesia, Primary, 33 AR 616726
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, 5 AR 608647
Ciliary Dyskinesia, Primary, 6 AR 610852
Ciliary Dyskinesia, Primary, 7 AR 611884
Ciliary Dyskinesia, Primary, 9 AR 612444
Conotruncal Heart Malformations AD 217095
Heterotaxy, Visceral, 4, Autosomal AD 613751
Heterotaxy, Visceral, 5 AD 270100
Heterotaxy, visceral, 6, autosomal recessive AR 614779
Heterotaxy, Visceral, 7, Autosomal AR 616749
Heterotaxy, visceral, 8, autosomal AR 617205
Heterotaxy, Visceral, X-Linked XL 306955
Infantile Nephronophthisis AR 602088
Joubert Syndrome 10 XL 300804
Nephronophthisis 16 AR 615382

Related Test

Name
PGxome®

Citations

  • Collins et al. 2014. PubMed ID: 26237387
  • Hoff et al. 2013. PubMed ID: 23793029
  • Human Gene Mutation Database (Bio-base).
  • Kaasinen et al. 2010. PubMed ID: 20413652
  • Karkera et al. 2007. PubMed ID: 17924340
  • Kennedy. et al. 2007. PubMed ID: 17515466
  • Leigh et al. 2009. PubMed ID: 19606528
  • Lin et al. 2000. PubMed ID: 11256661
  • Otto et al. 2003. PubMed ID: 12872123
  • Paff et al. 2017. PubMed ID: 28041644
  • Schön et al. 2002. PubMed ID: 11935322
  • Sutherland and Ware. 2009. PubMed ID: 19876930
  • Wallmeier. 2019. PubMed ID: 31630787
  • Wessels et al. 2010. PubMed ID: 20452998
  • 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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