Performed

Weekly

Methodology

Next Generation Sequencing (NGS)

Reported

Routine: 16 days from receipt of specimen

Synonyms

  • Arrhythmogenic Cardiomyopathy Multi-Gene Panel
  • Cardiomyopathy and Arrhythmia Panel, Sequencing
  • Cardiomyopathy/Arrhythmia Panel
  • Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
  • Arrhythmogenic Right Ventricular Dysplasia (ARVD)
  • Brugada Syndrome (BrS)
  • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
  • Dilated Cardiomyopathy (DCM)
  • Familial Dilated Cardiomyopathy (FDC)
  • Familial Polymorphic Cardiomyopathy (FPVT)
  • Hypertrophic Cardiomyopathy (HCM)
  • Jervell and Lange-Nielsen Syndrome
  • Left Ventricular Noncompaction (LVNC)
  • Long QT Syndrome (LQTS)
  • Romano-Ward
  • Short QT Syndrome (SQTS)
  • Next Generation Sequencing (NGS)
  • Inherited Disease
  • Clinical Genomics

Performing Lab

Clinical Genomics

Turnaround Time

After specimen receipt in the Clinical Genomics Lab, results are generally available within 16 days.

Add-on Eligibility

Yes, within 7 days of collection
*If DNA has been extracted previously for other Clinical Genomics tests, this is stored for 6 weeks and may qualify for add-on

Specimen Type

Blood

Specimen Volume

Adult: 5 mL (Minimum: 1 mL)
Pediatric: 1 mL (Minimum: 1 mL)

Collection Container

EDTA Whole Blood Tube (Lavender Top Vacutainer)

Pediatric Collection

3.0 mL EDTA Whole Blood Tube (Lavender Top Vacutainer)

Unacceptable Conditions

  1. Severely clotted or grossly hemolyzed specimens
  2. Specimens that have been improperly collected, stored, or transported
  • Specimens collected in preservatives other than EDTA
    • ACD tubes are accepted, but EDTA is preferred
  • Serum or plasma
  • Specimens that have been frozen
  • Commingled specimens
  1. Specimens in tubes that have been damaged or broken during transport
  2. Specimens with insufficient volume for testing
  3. Unlabeled or mislabeled specimens

Storage/Transport Temperature

Transport Instructions
Collection Location Transport Temperature Processing Required Timeframe
ED/Inpatient Room Temperature None Specimen must be received by the lab within 3 days of collection
Laboratory/Outpatient/Off-Site Room Temperature None Specimen must be received by the lab within 3 days of collection

Storage: Refrigerated

Stability (from collection to initiation)

Stability:
Prior to Extraction:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen: Refrigerated
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 1 month
  • Extracted DNA: 6 weeks

Collection Instructions

Labeling Instructions:
  1. When labeling blood tubes, leave a small window visible for the lab to assess the fill volume and sample integrity
  2. Ensure that the barcode is in the correct orientation.

Collection Instructions:
  1. Follow the correct order of draw when collecting with additional orders and tube types:
     

Reference Interval

The reference interval for the Cardiomyopathy and Arrhythmia Panel is defined as the DNA sequence corresponding to those regions targeted by the assay as listed in the Genome Reference Consortium Human build 37 (GRCh37).

Interpretive Data

Refer to report for result specific interpretation details.

The Cardiomyopathy and Arrythmia Comprehensive Sequencing Panel is a next generation sequencing assay (NGS) which evaluates a panel of genes for the presence of pathogenic variants associated with heritable forms of cardiomyopathies including arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction (LVNC) and arrhythmias including arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada Syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), long QT syndrome (LQTS), and short QT Syndrome (SQTS). This test interrogates the coding regions of a total of 124 genes which are known to be clinically relevant for the development of these disorders. The resulting genomic profile can be used to provide molecular confirmation of a clinical diagnosis in a symptomatic person and/or assist with risk assessment of relatives of an affected individual.

Consent for genetic testing is recommended.

List of the 124 genes detected by the Cardiomyopathy and Arrythmia Comprehensive Sequencing Panel.
ABCC9 ACADVL ACTC1 ACTN2 AGL AKAP9 ALMS1 ALPK3 ANK2 ANKRD1
BAG3 BRAF CACNA1C CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV3 CDH2
CRYAB CSRP3 CTNNA3 DES DMD DNAJC19 DOLK DSC2 DSG2 DSP
ELAC2 EMD EYA4 FHL1 FHOD3 FKRP FKTN FLNC GAA GATA4
GATAD1 GLA GNB5 GPD1L HCN4 HRAS JPH2 JUP KCND3 KCNE1
KCNE2 KCNE3 KCNH2 KCNJ2 KCNJ5 KCNJ8 KCNQ1 KRAS LAMA4 LAMP2
LDB3 LMNA LZTR1 MAP2K1 MAP2K2 MIB1 MRAS MTO1 MYBPC3 MYH6
MYH7 MYL2 MYL3 MYL4 MYLK2 MYLK3 MYOZ2 MYPN NEXN NKX2-5
NRAS OBSCN PCCA PCCB PKP2 PLN PPA2 PPCS PPP1CB PRDM16
PRKAG2 PTPN11 RAF1 RBM20 RIT1 RYR2 SCN1B SCN2B SCN3B SCN4B
SCN5A SDHA SGCD SHOC2 SLC22A5 SNTA1 SOS1 TAFAZZIN TBX20 TCAP
TECRL TGFB3 TMEM43 TMEM70 TNNC1 TNNI3 TNNI3K TNNT2 TPM1 TRDN
TRPM4 TTN TTR VCL            
Ordering

Performed

Weekly

Methodology

Next Generation Sequencing (NGS)

Reported

Routine: 16 days from receipt of specimen

Synonyms

  • Arrhythmogenic Cardiomyopathy Multi-Gene Panel
  • Cardiomyopathy and Arrhythmia Panel, Sequencing
  • Cardiomyopathy/Arrhythmia Panel
  • Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
  • Arrhythmogenic Right Ventricular Dysplasia (ARVD)
  • Brugada Syndrome (BrS)
  • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
  • Dilated Cardiomyopathy (DCM)
  • Familial Dilated Cardiomyopathy (FDC)
  • Familial Polymorphic Cardiomyopathy (FPVT)
  • Hypertrophic Cardiomyopathy (HCM)
  • Jervell and Lange-Nielsen Syndrome
  • Left Ventricular Noncompaction (LVNC)
  • Long QT Syndrome (LQTS)
  • Romano-Ward
  • Short QT Syndrome (SQTS)
  • Next Generation Sequencing (NGS)
  • Inherited Disease
  • Clinical Genomics

Performing Lab

Clinical Genomics

Turnaround Time

After specimen receipt in the Clinical Genomics Lab, results are generally available within 16 days.

Add-on Eligibility

Yes, within 7 days of collection
*If DNA has been extracted previously for other Clinical Genomics tests, this is stored for 6 weeks and may qualify for add-on
Collection

Specimen Type

Blood

Specimen Volume

Adult: 5 mL (Minimum: 1 mL)
Pediatric: 1 mL (Minimum: 1 mL)

Collection Container

EDTA Whole Blood Tube (Lavender Top Vacutainer)

Pediatric Collection

3.0 mL EDTA Whole Blood Tube (Lavender Top Vacutainer)

Unacceptable Conditions

  1. Severely clotted or grossly hemolyzed specimens
  2. Specimens that have been improperly collected, stored, or transported
  • Specimens collected in preservatives other than EDTA
    • ACD tubes are accepted, but EDTA is preferred
  • Serum or plasma
  • Specimens that have been frozen
  • Commingled specimens
  1. Specimens in tubes that have been damaged or broken during transport
  2. Specimens with insufficient volume for testing
  3. Unlabeled or mislabeled specimens

Storage/Transport Temperature

Transport Instructions
Collection Location Transport Temperature Processing Required Timeframe
ED/Inpatient Room Temperature None Specimen must be received by the lab within 3 days of collection
Laboratory/Outpatient/Off-Site Room Temperature None Specimen must be received by the lab within 3 days of collection

Storage: Refrigerated

Stability (from collection to initiation)

Stability:
Prior to Extraction:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen: Refrigerated
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 1 month
  • Extracted DNA: 6 weeks

Collection Instructions

Labeling Instructions:
  1. When labeling blood tubes, leave a small window visible for the lab to assess the fill volume and sample integrity
  2. Ensure that the barcode is in the correct orientation.

Collection Instructions:
  1. Follow the correct order of draw when collecting with additional orders and tube types:
     
Result Interpretation

Reference Interval

The reference interval for the Cardiomyopathy and Arrhythmia Panel is defined as the DNA sequence corresponding to those regions targeted by the assay as listed in the Genome Reference Consortium Human build 37 (GRCh37).

Interpretive Data

Refer to report for result specific interpretation details.

The Cardiomyopathy and Arrythmia Comprehensive Sequencing Panel is a next generation sequencing assay (NGS) which evaluates a panel of genes for the presence of pathogenic variants associated with heritable forms of cardiomyopathies including arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction (LVNC) and arrhythmias including arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada Syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), long QT syndrome (LQTS), and short QT Syndrome (SQTS). This test interrogates the coding regions of a total of 124 genes which are known to be clinically relevant for the development of these disorders. The resulting genomic profile can be used to provide molecular confirmation of a clinical diagnosis in a symptomatic person and/or assist with risk assessment of relatives of an affected individual.

Consent for genetic testing is recommended.

List of the 124 genes detected by the Cardiomyopathy and Arrythmia Comprehensive Sequencing Panel.
ABCC9 ACADVL ACTC1 ACTN2 AGL AKAP9 ALMS1 ALPK3 ANK2 ANKRD1
BAG3 BRAF CACNA1C CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV3 CDH2
CRYAB CSRP3 CTNNA3 DES DMD DNAJC19 DOLK DSC2 DSG2 DSP
ELAC2 EMD EYA4 FHL1 FHOD3 FKRP FKTN FLNC GAA GATA4
GATAD1 GLA GNB5 GPD1L HCN4 HRAS JPH2 JUP KCND3 KCNE1
KCNE2 KCNE3 KCNH2 KCNJ2 KCNJ5 KCNJ8 KCNQ1 KRAS LAMA4 LAMP2
LDB3 LMNA LZTR1 MAP2K1 MAP2K2 MIB1 MRAS MTO1 MYBPC3 MYH6
MYH7 MYL2 MYL3 MYL4 MYLK2 MYLK3 MYOZ2 MYPN NEXN NKX2-5
NRAS OBSCN PCCA PCCB PKP2 PLN PPA2 PPCS PPP1CB PRDM16
PRKAG2 PTPN11 RAF1 RBM20 RIT1 RYR2 SCN1B SCN2B SCN3B SCN4B
SCN5A SDHA SGCD SHOC2 SLC22A5 SNTA1 SOS1 TAFAZZIN TBX20 TCAP
TECRL TGFB3 TMEM43 TMEM70 TNNC1 TNNI3 TNNI3K TNNT2 TPM1 TRDN
TRPM4 TTN TTR VCL            

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