Pan Cardiomyopathy Panel (62 Genes)
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000509149.4
- Last updated: 2015-11-23
- Test version history
- 509149.12, last updated: 2023-12-04
- 509149.11, last updated: 2022-09-06
- 509149.10, last updated: 2021-09-08
- 509149.9, last updated: 2020-01-15
- 509149.8, last updated: 2019-11-01
- 509149.7, last updated: 2018-11-30
- 509149.6, last updated: 2017-11-09
- 509149.5, last updated: 2016-11-10
- 509149.4, last updated: 2015-11-23
- 509149.3, last updated: 2015-02-17
- 509149.2, last updated: 2014-12-10
- 509149.1, last updated: 2013-12-13
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Dilated cardiomyopathy 1O
Offered by Laboratory for Molecular Medicine
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Pan Cardiomyopathy Panel (62 Genes) (PCM Panel)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://personalizedmedicine.partners.org/Laboratory-For-Molecular-Medicine/Ordering/Cardiomyopathy/PanCardiomyopathy-Panel.aspx
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- VisCap analysis
- Agilent SureSelect
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Illumina MiSeq
- Agilent SureSelect
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.The detection rate of the Pan Cardiomyopathy Panel is approximately 35% for HCM, ~37% for DCM and ~50% for ARVC. The detection rate for the other cardiomyopathies remains unknown.
- The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. - PubMed ID: 24503780
- Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. - PubMed ID: 25611685
Testing strategy
HelpThe lab's suggested sequence of ordering tests based on clinical scenarios. It may include information on: reflex testing including each test component, and scenarios which prompt additional components of testing; whether lab communicates interim results or automatically proceeds to further analyses; and if any components are performed in another laboratory.The Pan Cardiomyopathy Panel is best suited for individuals who already have exhausted current testing options or those whose clinical diagnosis is not yet clear and may help shorten the “diagnostic odyssey.” While the Pan Cardiomyopathy Panel offers comprehensive testing for gene for all forms of cardiomyopathy, there is a higher likelihood of finding novel variants, which may be more difficult if it is found in a gene that is not (yet) known to cause the individual’s disease. The disease-specific sub-panels should be ordered for indivdiuals with a clear diagnosis and the where identification of a large number of variants of uncertain significance would be cumbersome to the patient or physician. Each sub-panel will provide comprehensive coverage of the implicated genes for that disease and reduce the incidence of variants of uncertain significance in unrelated genes. 000 The Pan Cardiomyopathy Panel is best suited for individuals who already have exhausted current testing options or those whose clinical diagnosis is not yet clear and may help shorten the “diagnostic odyssey.” While the Pan Cardiomyopathy Panel offers comprehensive testing for gene for all forms of cardiomyopathy, there is a higher likelihood of finding novel variants, which may be more difficult if it is found in a gene that is not (yet) known to cause the individual’s disease. The disease-specific sub-panels should be ordered for indivdiuals with a clear diagnosis and the where identification of a large number of variants of uncertain significance would be cumbersome to the patient or physician. Each sub-panel will provide comprehensive coverage of the implicated genes for that disease and reduce the incidence of variants of uncertain significance in unrelated genes.
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.