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Test Code
5326
Test Name
Long QT Syndrome NGS Panel
CPT Codes
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
Description

Long QT syndrome is an inherited or acquired cardiac arrhythmia. Typical findings include prolonged QT interval, T-wave abnormalities, and torsade de pointes, a specific form of polymorphic ventricular tachycardia. Torsade de pointes episodes can lead to ventricular fibrillation, however, most revert to a normal sinus rhythm. Syncope associated with torsade de pointes is a common finding.

The long QT syndrome NGS panel consists of nineteen genes: AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, RYR2, SCN4B, SCN5A, SNTA1 and TRDN.

Gene

Disorder

MIM

Inheritance

AKAP9

Long QT syndrome 11 (LQT11)

611820

AD

ANK2

Long QT syndrome 4 (LQT4)

600919

AD

CACNA1C

Timothy syndrome (TS)

Brugada syndrome 3 (BRGDA3)

601005

611875

AD

AD

CALM1

Long QT syndrome 14 (LQT14)

Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4)

616247

614916

AD

AD

CALM2

Long QT syndrome 15 (LQT15)

616249

AD

CALM3

Long QT syndrome, CALM3 related

-

AD

CAV3

Long QT syndrome 9 (LQT9)

Cardiomyopathy, familial hypertrophic, 1 (CMH1)

Sudden infant death syndrome, CAV3 related

611818

192600

-

AD

AD

AD

KCNE1

Long QT syndrome 5 (LQT5)

Jervell and Lange-Nielsen syndrome 2 (JLNS2)

613695

612347

AD

AR

KCNE2

Long QT syndrome 6 (LQT6)

Atrial fibrillation, familial, 4 (ATFB4)

613693

611493

AD

AD

KCNH2

Long QT syndrome 2 (LQT2)

Short QT syndrome 1 (SQT1)

Brugada syndrome, KCNH2 related

613688

609620

-

AD

AD

AD

KCNJ2

Long QT syndrome 7 (LQT7), Andersen syndrome

Atrial fibrillation, familial, 9 (ATFB9)

Short QT syndrome 3 (SQT3)

170390

613980

609622

AD

AD

AD

KCNJ5

Long QT syndrome 13 (LQT13)

613485

AD

KCNQ1

Long QT syndrome 1 (LQT1)

Atrial fibrillation, familial, 3 (ATFB3)

Jervell and Lange-Nielsen syndrome 1 (JLNS1)

Short QT syndrome 2 (SQT2)

192500

607554

220400

609621

AD

AD

AR

AD

NOS1AP

Long QT syndrome, NOS1AP related

-

AD

RYR2

Long QT syndrome, RYR2 related

-

AD

SCN4B

Long QT syndrome 10 (LQT10)

Atrial fibrillation, familial, 17 (ATFB17)

611819

611819

AD

AD

SCN5A

Long QT syndrome 3 (LQT3)

Brugada syndrome 1 (BRGDA1)

Atrial fibrillation, familial, 10 (AFTB10)

Cardiomyopathy, dilated, 1E (CMD1E)

Heart block, progressive, type IA (PFHB1A)

Sick sinus syndrome 1 (SSS1)

Ventricular fibrillation, familial, 1 (VF1)

603830

601144

614022

601154

113900

608567

603829

AD

AD

AD

AD

AD

AR

AD

SNTA1

Long QT syndrome 12 (LQT12)

612955

AD

TRDN

Long QT syndrome, TRDN related

-

AR
Testing Schedule
Monday-Friday
Genes
AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, RYR2, SCN4B, SCN5A, SNTA1, TRDN
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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