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HelpTest ID: CACMG Comprehensive Arrhythmia and Cardiomyopathy Gene Panel, Varies
Ordering Guidance
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Forms
1. New York Clients-Informed consent is required.
Document on the request form or electronic order that a copy is on file.
The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Hereditary Cardiomyopathies and Arrhythmias Patient Information
4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request (T724) with the specimen.
Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of either a cardiomyopathy or cardiac arrhythmia
Establishing a diagnosis of a hereditary form of either a cardiomyopathy or cardiac arrhythmia.
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 105 genes associated with hereditary forms of cardiomyopathies and hereditary forms of cardiac arrhythmias: ABCC9, ACAD9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, ANK2, BAG3, BRAF, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, CPT2, CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, ELAC2, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GLA, GNB5, HCN4, HRAS, JPH2, JUP, KCND2, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ8, KCNQ1, KRAS, LAMP2, LMNA, LZTR1, MAP2K1, MAP2K2, MRAS, MTO1, MYBPC3, MYH7, MYL2, MYL3, MYLK3, MYPN, NEXN, NKX2-5, NRAS, PCCA, PCCB, PKP2, PLN, PPA2, PPCS, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN5A, SGCD, SHOC2, SLC22A5, SLC4A3, SOS1, SOS2, TAZ (TAFAZZIN), TBX20, TCAP, TECRL, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TTN, TTR, and VCL. See Targeted Genes and Methodology Details for Comprehensive Arrhythmia and Cardiomyopathy Gene Panel and Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for hereditary forms of cardiomyopathy and hereditary forms of cardiac arrhythmias.
Prior Authorization is available for this assay.
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.
Reporting Name
Cardiomyopathy and Arrhythmia PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
The cardiomyopathies are a group of disorders characterized by disease of the heart muscle. Cardiomyopathy can be caused by either genetic (inherited) factors or nongenetic (acquired) causes such as infection or trauma. When the presence or severity of the cardiomyopathy observed in a patient cannot be explained by acquired causes, genetic testing for the inherited forms of cardiomyopathy may be considered. The hereditary forms of cardiomyopathy include hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy (ARVC or AC), left ventricular noncompaction, and restrictive cardiomyopathy.(1) Cardiomyopathy may also be a feature of an underlying systemic condition such as Noonan syndrome, a mitochondrial disorder, a muscular dystrophy, or a metabolic storage disorder.(1) In these cases, cardiomyopathy may be the first feature to come to attention clinically.
Cardiac arrhythmias are a group of conditions characterized by abnormal heart rhythms. Arrhythmias can be caused by either genetic (inherited) factors or by nongenetic (acquired) causes such as medications and infection. The more common hereditary forms of cardiac arrhythmias include long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome.(2) Other inherited forms of arrhythmia can include, but are not limited to, ARVC and atrial fibrillation.(2) Additionally, other forms of inherited cardiomyopathies may first come to medical attention due to an associated arrhythmia. Cardiac arrhythmias can also be a feature of rarer, syndromic conditions including Andersen-Tawil syndrome, Cantu syndrome, Carvajal syndrome, Jervell and Lange-Nielsen syndrome, Naxos disease, Timothy syndrome, and Emery-Dreifuss muscular dystrophy.(2)
Inherited cardiomyopathies and inherited cardiac arrhythmias can follow autosomal dominant, autosomal recessive, X-linked, and digenic patterns of inheritance. Genes associated with mitochondrial inheritance of cardiomyopathy and cardiac arrhythmia are not assessed on this panel.
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(3) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Hershberger RE, Givertz MM, Ho CY, et al. Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. J Card Fail. 2018 May;24(5):281-302. doi: 10.1016/j.cardfail.2018.03.004
2. Schwartz PJ, Ackerman MJ, Antzelevitch C, et al. Inherited cardiac arrhythmias. Nat Rev Dis Primers. 2020 Jul 16;6(1):58.. doi: 10.1038/s41572-020-0188-7
3. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424. doi: 10.1038/gim.2015.30
Day(s) Performed
Varies
Report Available
28 to 42 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81439
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| CACMG | Cardiomyopathy and Arrhythmia Panel | 51966-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617142 | Test Description | 62364-5 |
| 617143 | Specimen | 31208-2 |
| 617144 | Source | 31208-2 |
| 617145 | Result Summary | 50397-9 |
| 617146 | Result | 82939-0 |
| 617147 | Interpretation | 69047-9 |
| 617148 | Additional Results | 82939-0 |
| 617149 | Resources | 99622-3 |
| 617150 | Additional Information | 48767-8 |
| 617151 | Method | 85069-3 |
| 617152 | Genes Analyzed | 48018-6 |
| 617153 | Disclaimer | 62364-5 |
| 617154 | Released By | 18771-6 |
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