Short QT Syndrome Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10231 CACNA1C 81479,81479 Order Options and Pricing
CACNA2D1 81479,81479
CACNB2 81406,81479
KCNH2 81406,81479
KCNJ2 81403,81479
KCNQ1 81406,81479
SLC4A3 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10231Genes x (7)81479 81403(x1), 81406(x3), 81479(x10) $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

Short QT Syndrome (SQTS) is an inherited cardiac arrhythmogenic disorder characterized by marked shortened QT intervals, increased risk of atrial /ventricular fibrillation and sudden cardiac death (SCD) in individuals with a structurally normal heart (Gussak et al. 2000; Gaita et al. 2003). The clinical presentation of SQTS is diverse with a high penetrance, but a great variability of expression. Patients with SQTS may have cardiac arrest, palpitations, syncope, atrial fibrillation, but many patients are asymptomatic (Giustetto et al. 2006). Although it usually occurs in adults (median age 30 years), the age of presentation ranges from a few months to the sixth decade of life. SQTS diagnosis is based on the evaluation of symptoms, patient's family history and 12-lead ECG. Early diagnosis improves the prognosis of the disorder.

Genetics

Short QT Syndrome is transmitted in an autosomal dominant pattern. Some cases of SQTS are sporadic and occur in people with no apparent family history of heart problems. SQTS is caused by genes encoding ion channels and is classified into 6 types (SQT1-6). Gain-of-function variants augment outward potassium currents in SQT1-3(KCNH2, KCNQ1 and KCNJ2), and loss-of-function variants reduces the current of calcium channels in SQT4-6 (CACNA1C, CACNB2 and CACNA2D1)(Patel et al. 2010; Templin et al. 2011). Many of the genes involved in SQTS are the same as those responsible for LQTS, but the effect of variants is opposite to those encountered in LQTS. The most common form of SQTS (SQT1) is caused by pathogenic variants in KCNH2, which contribute approximately 25 percent of cases (Giustetto et al. 2006). The precise prevalence of SQTS is unknown due to failure to identify risk factors and varying definitions of SQTS. However, it is estimated to be 2 percent or less when using a cutoff of 360 msec (Kobza et al. 2009; Miyamoto et al. 2012). A wide variety of causative variants (missense, nonsense, splicing, small deletions, insertions, large deletions /duplications) have been reported in all 6 genes, with the exception of no record of large deletions/duplications or complex genomic rearrangements in CACNA1C (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

It is estimated that this NGS panel can detect a pathogenic variant in approximately 20% of patients with SQTS (Schimf et al. 2008).

Gross deletions or duplications not detectable by Sanger sequencing have been reported in CACNA2D1, CACNB2, KCNH2, KCNJ2, and KCNQ1, but no statistical data is available yet (Human Gene Mutation Database). No gross deletions or duplications have been reported in CACNA1C.

Testing Strategy

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

This panel 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

All patients with symptoms suggestive of Short QT syndrome are candidates for this test.

Genes

Official Gene Symbol OMIM ID
CACNA1C 114205
CACNA2D1 114204
CACNB2 600003
KCNH2 152427
KCNJ2 600681
KCNQ1 607542
SLC4A3 106195
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Gaita F. et al. 2003. Circulation. 108: 965-70. PubMed ID: 12925462
  • Giustetto C. et al. 2006. European Heart Journal. 27: 2440-7. PubMed ID: 16926178
  • Gussak I. et al. 2000. Cardiology. 94: 99-102. PubMed ID: 11173780
  • Human Gene Mutation Database (Bio-base).
  • Kobza R. et al. 2009. Heart Rhythm : the Official Journal of the Heart Rhythm Society. 6: 652-7. PubMed ID: 19303371
  • Miyamoto A. et al. 2012. Heart Rhythm : the Official Journal of the Heart Rhythm Society. 9: 66-74. PubMed ID: 21855519
  • Patel C. et al. 2010. Circulation. Arrhythmia and Electrophysiology. 3: 401-8. PubMed ID: 20716721
  • Schimpf R. et al. 2008. Current Opinion in Cardiology. 23:192-8. PubMed ID: 18382206
  • Templin C. et al. 2011. European Heart Journal. 32: 1077-88. PubMed ID: 21383000

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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