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Long QT Syndrome Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10325 AKAP9 81479,81479 Order Options and Pricing
ANK2 81479,81479
CACNA1C 81479,81479
CALM1 81479,81479
CALM2 81479,81479
CALM3 81479,81479
CAV3 81404,81479
KCNE1 81479,81479
KCNE2 81479,81479
KCNH2 81406,81479
KCNJ2 81403,81479
KCNJ5 81479,81479
KCNQ1 81406,81479
SCN4B 81479,81479
SCN5A 81407,81479
SNTA1 81479,81479
TANGO2 81479,81479
TECRL 81479,81479
TRDN 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10325Genes x (19)81479 81403(x1), 81404(x1), 81406(x2), 81407(x1), 81479(x33) $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 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

  • Chun-An Chen, PhD

Clinical Features and Genetics

Clinical Features

Long QT syndrome (LQTS) is a heritable channelopathy characterized by prolonged cardiac repolarization that may trigger ventricular arrhythmias (torsade de pointes), recurrent syncopes, seizure, or sudden cardiac death (Alders et al. 2018. PubMed ID: 20301308). LQTS can manifest with syncope and cardiac arrest that is commonly triggered by adrenergic stress, often precipitated by emotion or exercise. Roughly 10% to 15% of patients experience symptoms at rest or during the night (Schwartz et al. 2001. PubMed ID: 11136691). The mean age of onset of symptoms is 12 years, and earlier onset usually is associated with a more severe form of the disease (Priori et al. 2004. PubMed ID: 15367556). Long QT syndrome has an incidence of about 1 in 2500 individuals (Schwartz et al. 2009. PubMed ID: 19841298).

Pathogenic variants in LQTS-associated genes also manifest additional clinical features. Autosomal dominant Timothy syndrome is characterized by prolonged QT interval, arrhythmias, syndactyly, developmental delay, and autism spectrum disorders. Autosomal dominant CAV3 caveolinopathy may cause hypertrophic cardiomyopathy, distal myopathy, and elevated serum creatine phosphokinase. Autosomal recessive Jervell and Lange-Nielsen syndrome is characterized by prolonged QT interval and bilateral congenital deafness. Biallelic pathogenic variants in TECRL and TRDN have been reported in patients with prolonged QT interval and catecholaminergic polymorphic ventricular tachycardia.  

Advantages of genetic testing for LQTS include confirmation of diagnosis, targeted testing of other family members, and assistance with reproductive planning. An early diagnosis of LQTS followed by early medical treatment (beta-blockers, implantable cardioverter-defibrillators, and left cardiac sympathetic denervation) has been demonstrated to reduce the mortality rate (Rohatgi et al. 2017. PubMed ID: 28728690).

Genetics

Long QT syndrome is primarily inherited in an autosomal dominant but may also be inherited in autosomal recessive manner or may arise de novo. In addition to inherited forms, LQTS can also be acquired (acquired LQTS), usually as a result of pharmacological therapy. 

Up to 80% of autosomal dominant long QT cases are due to heterozygous pathogenic variants in KCNQ1, KCNH2, and SCN5A (Ackerman et al. 2011. PubMed ID: 21810866). The remaining LQTS-associated genes account for less than 5-10% of cases (Alders et al. 2018. PubMed ID: 20301308). Pathogenic missense, nonsense, frameshift, and splicing variants as well as CNV events have been reported in genes associated with LQTS. De novo pathogenic variants leading to LQTS are rare. Gross deletions or duplications are relatively rare, but they have been reported in CAV3, KCNE1, KCNH2, KCNJ2, KCNQ1, SCN5A, TECRL, and TRDN (Human Gene Mutation Database). 

Pathogenic variants associated with LQTS are largely found in genes involved in cardiac ion-channels or interacting proteins that are responsible for orchestrating the action potential of the heart.

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

Clinical Sensitivity - Sequencing with CNV PGxome

It is estimated that this NGS panel can detect a pathogenic variant in approximately 80% of patients with LQTS (Taggart et al. 2007. PubMed ID: 17502575; Ackerman et al. 2011. PubMed ID: 21810866).

Testing Strategy

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

This panel typically provides 100% 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).

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

Candidates for this test include individuals with long QT syndrome, or a family history of long QT syndrome.

Genes

Official Gene Symbol OMIM ID
AKAP9 604001
ANK2 106410
CACNA1C 114205
CALM1 114180
CALM2 114182
CALM3 114183
CAV3 601253
KCNE1 176261
KCNE2 603796
KCNH2 152427
KCNJ2 600681
KCNJ5 600734
KCNQ1 607542
SCN4B 608256
SCN5A 600163
SNTA1 601017
TANGO2 616830
TECRL 0
TRDN 603283
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Ackerman et al. 2011. PubMed ID: 21810866
  • Alders et al. 2018. PubMed ID: 20301308
  • Human Gene Mutation Database (Bio-base)
  • Priori et al. 2004. PubMed ID: 15367556
  • Rohatgi et al. 2017. PubMed ID: 28728690
  • Schwartz et al. 2001. PubMed ID: 11136691
  • Schwartz et al. 2009. PubMed ID: 19841298
  • Taggart et al. 2007. PubMed ID: 17502575

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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