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Test Code SQTSG Short QT Syndrome Gene Panel, Varies


Ordering Guidance


This test is intended for genetic screening for and diagnosis of short QT syndrome.

 

For comprehensive inherited cardiac arrhythmia genetic testing, order CARGG / Comprehensive Arrhythmia Gene Panel, Varies.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.

 

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Necessary Information


Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Hereditary Cardiomyopathies and Arrhythmias Patient Information (T725)

3. Short QT Syndrome Gene Panel (SQTSG) Prior Authorization Ordering Instructions

4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request (T724) with the specimen.

Useful For

Providing a genetic evaluation for patients with a personal or family history suggestive of short QT syndrome

 

Establishing a diagnosis of short QT syndrome

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 4 genes associated with short QT syndrome (SQTS): KCNH2, KCNJ2, KCNQ1, and SLC4A3. See Targeted Genes and Methodology Details for Short QT Syndrome Gene Panel and Method Description for additional details.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for SQTS.

 

Prior Authorization is available for this assay.

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Short QT Syndrome Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

Short QT syndrome (SQTS) is a genetic cardiac arrhythmia condition characterized by a shortened QT interval and T-wave abnormalities on electrocardiogram (ECG).(1) SQTS may result in or present with recurrent syncope, ventricular arrhythmia, sudden cardiac arrest, and sudden cardiac death.(1)

 

The prevalence of SQTS is unknown, but the condition is thought to be rare.(2) The overall diagnostic yield of genetic testing for SQTS is estimated to be 5% to 20%.(2,3) While disease-causing variants in several genes have been reported in association with SQTS, the strongest evidence of association is currently limited to gain-of- function variants in the cardiac ion change genes KCNH2, KCNJ2, and KCNQ1,(4) and loss-of-function variants in the SLC4A3 gene.(5) Based on current knowledge, SQTS follows an autosomal dominant pattern of inheritance.

 

Genetic testing in SQTS is recommended to confirm the clinical diagnosis, assist with risk stratification, guide management, and identify at-risk family members. Even individuals with a normal QT interval may still be at risk for a cardiac event and sudden cardiac death; thus, ECG analysis alone is insufficient to rule out the diagnosis, and genetic testing is necessary to confirm the presence or absence of disease in at-risk family members.(1-5)

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(6) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Day(s) Performed

Varies

Report Available

28 to 42 days

Specimen Retention Time

Whole blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81403

81406 x 2

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
SQTSG Short QT Syndrome Gene Panel 51966-0

 

Result ID Test Result Name Result LOINC Value
617464 Test Description 62364-5
617465 Specimen 31208-2
617466 Source 31208-2
617467 Result Summary 50397-9
617468 Result 82939-0
617469 Interpretation 69047-9
617470 Additional Results 82939-0
617471 Resources 99622-3
617472 Additional Information 48767-8
617473 Method 85069-3
617474 Genes Analyzed 48018-6
617475 Disclaimer 62364-5
617476 Released By 18771-6