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Test Code
5332
Test Name
Short QT Syndrome NGS Panel
CPT Codes
81403, 81406, 81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Alternate Names
SQT
Description

Short QT syndrome (SQT) is an inherited channelopathy of the heart characterized by a short QT interval. It is associated with syncope, atrial and ventricular tachyarrhythmias in the absence of structural heart disease, and increased risk of sudden cardiac death. Patients are typically young, but SQT can manifest at any age.

The short QT syndrome NGS panel consists of six genes: CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2 and KCNQ1.

Gene

Disorder

MIM

Inheritance

CACNA1C

Brugada syndrome 3 (BRGDA3)

Timothy syndrome (TS)

611875

601005

AD

AD

CACNA2D1

Short QT syndrome, CACNA2D1 related

-

AD

CACNB2

Brugada syndrome 4 (BRGDA4)

611876

AD

KCNH2

Short QT syndrome 1 (SQT1)

Long QT syndrome 2 (LQT2)

Brugada syndrome, KCNH2 related

609620

613688

-

AD

AD

AD

KCNJ2

Short QT syndrome 3 (SQT3)

Atrial fibrillation, familial, 4 (ATFB9)

Long QT syndrome 7 (LQT7), Andersen syndrome

609622

613980

170390

AD

AD

AD

KCNQ1

Short QT syndrome 2 (SQT2)

Atrial fibrillation, familial, 3 (ATFB3)

Jervell and Lange-Nielsen syndrome 1 (JLNS1)

Long QT syndrome 1 (LQT1)

609621

607554

220400

192500

AD

AD

AR

AD
Testing Schedule
Monday-Friday
Genes
CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1
Disease Group
Cardiovascular Disorders
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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