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Test Code CCMGG Comprehensive 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. To modify this panel via CGPH, please use the Cardiovascular/Connective Tissue/Dyslipidemia/Cerebrovascular/Primary Ciliary Dyskinesia disease state for step 1 on the Custom Gene Ordering Tool.

 

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


 



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 hematopoietic stem cell transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a hematopoietic stem cell transplant, call 800-533-1710.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

3. Whole blood collected postnatal from an umbilical cord is also acceptable. See Additional Information

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days

Additional Information:

1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.

2. To ensure minimum volume and concentration of DNA are met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.

3. For postnatal umbilical cord whole blood specimens, maternal cell contamination studies are recommended to ensure test results reflect that of the patient tested. A maternal blood specimen is required to complete maternal cell contamination studies. Order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on both the cord blood and maternal blood specimens under separate order numbers.

 

Specimen Type: Saliva

Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Supplies:

DNA Saliva Kit High Yield (T1007)

Saliva Swab Collection Kit (T786)

Container/Tube:

Preferred: High-yield DNA saliva kit

Acceptable: Saliva swab

Specimen Volume: 1 Tube if using T1007 or 2 swabs if using T786

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days

Additional Information: Saliva specimens are acceptable but not recommended. Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.

 

Specimen Type: Blood spot

Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Collection card (Whatman Protein Saver 903 Paper)

Acceptable: PerkinElmer 226 filter paper or blood spot collection card

Specimen Volume: 2 to 5 Blood spots

Collection Instructions:

1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect a Dried Blood Spot Sample.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Specimen Stability Information: Ambient (preferred)/Refrigerated

Additional Information:

1. Blood spot specimens are acceptable but not recommended. Due to lower quantity/quality of DNA yielded from blood spots, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.

2. Due to lower concentration of DNA yielded from blood spot, it is possible that additional specimen may be required to complete testing.

3. For collection instructions, see Blood Spot Collection Instructions

4. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)

5. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)

 

Specimen Type: Extracted DNA

Container/Tube:

Preferred: Screw Cap Micro Tube, 2mL with skirted conical base

Acceptable: Matrix tube, 1mL

Collection Instructions:

1. The preferred volume is at least 100 mcL at a concentration of 75 ng/mcL.

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated

Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). Our laboratory has experience with Chemagic, Puregene, Autopure, MagnaPure, and EZ1 extraction platforms and cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied. If applicable, specific gene regions that were unable to be interrogated due to DNA quality will be noted in the report.


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

3. Comprehensive Cardiomyopathy Panel (CCMGG) Prior Authorization Ordering Instructions

4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request Form (T724) with the specimen.

Useful For

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiomyopathy

 

Establishing a diagnosis of a hereditary form of cardiomyopathy

Genetics Test Information

This test utilizes next next-generation sequencing to detect single nucleotide and copy number variants in 83 genes associated with hereditary forms of cardiomyopathy: ABCC9, ACAD9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BRAF, CDH2, CPT2, CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, ELAC2, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GLA, HCN4, HRAS, JPH2, JUP, 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, SOS1, SOS2, TAZ (TAFAZZIN), TBX20, TCAP, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, and VCL. See Targeted Genes and Methodology Details for Comprehensive 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.

 

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

Comprehensive Cardiomyopathy Panel

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reject Due To

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

Cardiomyopathies are a group of disorders characterized by disease of the heart muscle. Cardiomyopathy can be caused by either inherited, genetic 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. Overall, cardiomyopathies are some of the most common genetic disorders. The inherited forms of cardiomyopathy include hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ACM), and left ventricular noncompaction (LVNC).(1)

 

The hereditary form of HCM is characterized by left ventricular hypertrophy in the absence of other cardiac or systemic causes that may cause hypertrophy of the heart muscle, such as longstanding, uncontrolled hypertension or aortic stenosis. The incidence of HCM in the general population is approximately 1:200 to 1:500, and it is estimated that 30% to 60% of cases can be attributed to a genetic etiology.(2) Hereditary forms of HCM are most often caused by genes encoding proteins of the cardiac sarcomere, the functional contractile unit of the heart muscle.

 

Hereditary forms of DCM are characterized by ventricular dilation with reduced cardiac performance in the absence of other cardiac or systemic causes that may cause dilation of the heart muscle, such as hypertension and ischemic heart disease. The incidence of DCM in the general population is approximately 1 in 2500, and it is estimated that approximately 50% of cases can be attributed to a genetic etiology.(3) Hereditary forms of DCM are most often caused by genes encoding proteins of the cardiac cytoskeleton and sarcomere.

 

Left ventricular noncompaction is characterized by prominent trabeculations of the left ventricle with trabecular recesses extending into the ventricular cavity. The incidence of LVNC in the general population is estimated to be 1 in 5000.(3) It is currently unclear if LVNC represents a genetically distinct form of cardiomyopathy, as many familial cases of LVNC have been linked to the same genes associated with other forms of hereditary cardiomyopathies and many affected individuals also meet diagnostic criteria for DCM or HCM.(3,4)

 

Arrhythmogenic cardiomyopathy is characterized by the presence of arrhythmogenic cardiac muscle in the absence of ischemic, hypertensive, or valvular cardiac disease. Arrhythmogenic right ventricular cardiomyopathy (ARVC), the most well-defined form of ACM, is characterized by the breakdown of the myocardium and replacement of right ventricular muscle tissue with fibrofatty tissue, resulting in an increased risk of arrhythmia and sudden death. In some cases, there may also be left ventricular involvement. The prevalence of ARVC (genetic and acquired) is estimated to be 1 in 2000 to 1 in 5000 in the general population.(5)

 

Hereditary forms of cardiomyopathy may be an isolated finding or may be a feature of an underlying systemic condition. Hereditary forms of cardiomyopathy can follow autosomal dominant, autosomal recessive, X-linked, and digenic patterns of inheritance. Mitochondrial inheritance is also possible, however, genes associated with mitochondrial inheritance of cardiomyopathy 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.(6) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Day(s) Performed

Varies

Report Available

21 to 35 days

Specimen Retention Time

Whole blood: 25 days (if available); Saliva: 30 days (if available); Extracted DNA: 3 months, Blood Spots: 1 year (if available)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test 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
CCMGG Comprehensive Cardiomyopathy Panel 107547-2

 

Result ID Test Result Name Result LOINC Value
617184 Test Description 62364-5
617185 Specimen 31208-2
617186 Source 31208-2
617187 Result Summary 50397-9
617188 Result 82939-0
617189 Interpretation 69047-9
617190 Additional Results 82939-0
617191 Resources 99622-3
617192 Additional Information 48767-8
617193 Method 85069-3
617194 Genes Analyzed 48018-6
617195 Disclaimer 62364-5
617196 Released By 18771-6

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
MATCC Maternal Cell Contamination, B Yes No

Testing Algorithm

For cord blood specimens that have an accompanying maternal blood specimen, maternal cell contamination studies will be performed at an additional charge.