Test Directory

Clear All
Test Code
5314
Test Name
Atrioventricular Block 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
Alternate Names
AV
Description

Atrioventricular (AV) block refers to abnormal impulse conduction through the AV node. This can result in a partial or complete interruption of impulse transmission from the atria to the ventricles. The most common causes of AV block include idiopathic fibrosis and sclerosis of the conduction system, and ischemic heart disease. AV block can also be a finding in certain genetic heart diseases.

The atrioventricular block NGS panel consists of nine genes: DES, EMD, GAA, GLA, LMNA, NKX2-5, SCN1B, SCN5A and TRPM4.

Gene

Disorder

MIM

Inheritance

DES

Atrioventricular block and mild myopathy

Cardiomyopathy, dilated, 1I (CMD1I)

Muscular dystrophy, limb-girdle, type 2R (LGMD2R)

Myopathy, myofibrillar, 1 (MFM1)

Scapuloperoneal syndrome, neurogenic, Kaeser type (SCPNK)

-

604765

615325

601419

181400

AD

AD

AR

AD/AR

AD

EMD

Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1)

310300

XLR

GAA

Glycogen storage disease II (GSD2)

232300

AR

GLA

Fabry disease

301500

XL

LMNA

Cardiomyopathy, dilated, 1A (CMD1A)

Emery-Dreifuss muscular dystrophy 2, AD (EDMD2)

Emery-Dreifuss muscular dystrophy 3, AR (EDMD3)

Charcot-Marie-Tooth disease, type 2B1 (CMT2B1)

Muscular dystrophy, congenital, LMNA-related

Muscular dystrophy, limb-girdle, type 1B (LGMD1B)

115200

181350

616516

605588

613205

159001

AD

AD

AR

AR

AD

AD

NKX2-5

Atrial septal defect 7, with or without AV conduction defects (ASD7)

Conotruncal heart malformations (CTHM)

Hypoplastic left heart syndrome 2 (HLHS2)

Tetralogy of Fallot (TOF)

Ventricular septal defect 3 (VSD2)

108900

217095

614435

187500

614432

AD

AD

AD

AD

AD

SCN1B

Brugada syndrome 5 (BRGDA5)

Atrial fibrillation, familial, 13 (ATFB13)

612838

615377

AD

AD

SCN5A

Atrial fibrillation, familial, 10 (AFTB10)

Brugada syndrome 1 (BRGDA1)

Cardiomyopathy, dilated, 1E (CMD1E)

Heart block, progressive, type IA (PFHB1A)

Long QT syndrome 3 (LQT3)

Sick sinus syndrome 1 (SSS1)

Ventricular fibrillation, familial, 1 (VF1)

614022

601144

601154

113900

603830

608567

603829

AD

AD

AD

AD

AD

AR

AD

TPRM4

Atrioventricular block, TPRM4 related

Brugada syndrome, TRPM4 related

Progressive familial heart block, type IB (PFHB1B)

-

-

604559

AD

AD

AD
Testing Schedule
Monday-Friday
Genes
DES, EMD, GAA, GLA, LMNA, NKX2-5, SCN1B, SCN5A, TRPM4
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.
© 2026 HNL Lab Medicine. All rights reserved.