GeneSeq® Cardio: Familial Arrhythmia Panel

GeneSeq®: Cardio – Familial Arrhythmia Panel
GeneSeq® Cardio: Familial Arrhythmia Panel
CPT: 81413; 81414
Updated on 07/16/2024
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Synonyms

  • Arrhythmogenic right ventricular dysplasia /cardiomyopathy
  • Atrial fibrillation
  • Brugada syndrome
  • Catecholaminergic polymorphic Ventricular tachycardia
  • Long QT syndrome

Test Includes

This test includes the following genes: AKAP9, ANK2, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GJA5, GPD1L, HCN4, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LIG3, NPPA, PKP2, PLN, PRKAG2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLMAP, SNTA1, TECRL, TGFB3, TMEM43, TRDN and TRPM4.


Special Instructions

In cases in which there is a known variant documented in the family, the physician may prefer to order Targeted Variant Analysis [482552].

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.


Expected Turnaround Time

14 - 21 days (In some cases, additional time may be required for confirmatory or reflex tests.)



Specimen Requirements


Specimen

Whole blood or PurFlock buccal swab kit or Oragene Dx 500 saliva kit


Volume

8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit


Minimum Volume

3 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit


Container

Yellow-top (ACD-A) tube or lavender-top (EDTA) tube or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit


Collection

Standard phlebotomy; follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.


Storage Instructions

Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.


Stability Requirements

Whole blood: 14 days at room temperature or 30 days at 4°C

Buccal: 60 days at room temperature

Saliva: 60 days at room temperature


Causes for Rejection

Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container


Test Details


Use

This test is used for diagnostic testing for arrhythmias, including atrial fibrillation, long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, arrhythmogenic right ventricular dysplasia/cardiomyopathy and Brugada syndrome. It also is used for presymptomatic testing for family members.


Limitations

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions and deletions.

Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).


References

Hershberger RE, Givertz, Ho CY et al. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Sep;20(9):899-909.29904160
Musunuru K, Hershberger RE, Day SM et al. Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2020 Aug;13(4):e000067.32698598

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
482225 Familial Arrhythmia Panel 482208 Genes 48018-6
482225 Familial Arrhythmia Panel 482209 Ethnicity 42784-9
482225 Familial Arrhythmia Panel 482210 Specimen Type 31208-2
482225 Familial Arrhythmia Panel 482211 Genetic Counselor 89993-0
482225 Familial Arrhythmia Panel 482212 Indication 42349-1
482225 Familial Arrhythmia Panel 482213 Result: 48003-8
482225 Familial Arrhythmia Panel 482214 Interpretation 53039-4
482225 Familial Arrhythmia Panel 482215 General Comments 8262-8
482225 Familial Arrhythmia Panel 482216 Recommendations 62385-0
482225 Familial Arrhythmia Panel 482217 Additional ClinicalInformation 55752-0
482225 Familial Arrhythmia Panel 482218 Comments 8251-1
482225 Familial Arrhythmia Panel 482219 Methods/Limitations 49549-9
482225 Familial Arrhythmia Panel 482220 References 75608-0
482225 Familial Arrhythmia Panel 482221 Genes Analyzed 48018-6
482225 Familial Arrhythmia Panel 482222 Director Review/Release 72486-4
482225 Familial Arrhythmia Panel 482223 PDF 51969-4

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