GTR Test Accession:
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GTR000509149.12
Last updated in GTR:
2023-12-04
View version history
GTR000509149.12,
last updated:
2023-12-04
GTR000509149.11,
last updated:
2022-09-06
GTR000509149.10,
last updated:
2021-09-08
GTR000509149.9,
last updated:
2020-01-15
GTR000509149.8,
last updated:
2019-11-01
GTR000509149.7,
last updated:
2018-11-30
GTR000509149.6,
last updated:
2017-11-09
GTR000509149.5,
last updated:
2016-11-10
GTR000509149.4,
last updated:
2015-11-23
GTR000509149.3,
last updated:
2015-02-17
GTR000509149.2,
last updated:
2014-12-10
GTR000509149.1,
registered in GTR:
2013-12-13
Last annual review date for the lab: 2023-12-01
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At a Glance
Test purpose:
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Diagnosis
Conditions (100):
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Primary dilated cardiomyopathy;
3-Methylglutaconic aciduria type 2;
Amyloidosis, hereditary systemic 1
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Genes (61):
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Methods (2):
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Molecular Genetics - Deletion/duplication analysis: VisCap analysis; ...
Target population: Help
Individuals with cardiomyopathy, specifically HCM, DCM, ARVC, LVNC, or RCM.
Clinical validity:
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The detection rate of the Pan Cardiomyopathy Panel is approximately …
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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PCM Panel
Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
Test Order Code:
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lmPCM-pnlAv6_L
View other test codes
View other test codes
Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Yes
Test strategy:
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Inherited cardiomyopathies are a group of genetically heterogeneous cardiac diseases that are relatively common in the general population They are associated with heart failure and sudden cardiac death and have a substantial genetic component. Familial inheritance is common and typically follows an autosomal dominant pattern, though other inheritance are also …
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View citations (1)
- Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagn. 2013;15(2):158-70. doi:10.1016/j.jmoldx.2012.09.002. Epub 2012 Dec 27. PMID: 23274168.
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test
Conditions
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Total conditions: 100
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 61
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
Method Category
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Test method
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Instrument
Deletion/duplication analysis
VisCap analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NextSeq 550
Clinical Information
Test purpose:
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Diagnosis
Clinical validity:
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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.
View citations (2)
- Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014;16(8):601-8. doi:10.1038/gim.2013.204. Epub 2014 Feb 06. PMID: 24503780.
- Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015;17(11):880-8. doi:10.1038/gim.2014.205. Epub 2015 Jan 22. PMID: 25611685.
Target population:
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Individuals with cardiomyopathy, specifically HCM, DCM, ARVC, LVNC, or RCM.
View citations (1)
- Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagn. 2013;15(2):158-70. doi:10.1016/j.jmoldx.2012.09.002. Epub 2012 Dec 27. PMID: 23274168.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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All VUS's are reported
All VUS's are reported
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes. *Please call. Offered on a case-by-case basis.
Yes. *Please call. Offered on a case-by-case basis.
Will the lab re-contact the ordering physician if variant interpretation changes?
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No. Ordering provider is encouraged to periodically contact the lab to see if there is any new information available. However, if the ordering physician has GeneInsight Clinic, they may receive automatic updates on classification through that program.
No. Ordering provider is encouraged to periodically contact the lab to see if there is any new information available. However, if the ordering physician has GeneInsight Clinic, they may receive automatic updates on classification through that program.
Research:
Is research allowed on the sample after clinical testing is complete?
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No
No
Recommended fields not provided:
Clinical utility,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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The Pan Cardiomyopathy Panel includes 62 genes: ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CASQ2, CAV3, CHRM2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FHL2, GATAD1, GLA, ILK, JPH2, JUP, LAMA4 (excludes exon 2A* in NM_001105209.1 and exon 8 in NM_002290.3), LAMP2, LDB3, LMNA (excludes exons 1B* and 13B* …
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Test Platform:
Agilent SureSelect
Test Confirmation:
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All clinically significant variants are confirmed by Sanger sequencing or an alternate assay.
Test Comments:
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The Pan Cardiomyopathy Panel (62 genes) offers comprehensive screening for HCM, DCM, RCM, LVNC, ARVC, and CPVT.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Technical sensitivity of this assay is 99.10% (95% CI: 99.04-99.16%) and positive predictive value is 99.39% (95% CI: 99.37-99.41%).
Assay limitations:
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Specific types of genetic variation, such as triplet repeat expansions, structural variation, and copy number events are currently not reliably detected by this assay. Additionally, while genome sequencing covers ~95% of the genome; there are certain regions for which the assay may fail to adequately generate sequence i nformation, such …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations
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Alamut, UCSC Genome Browser, gnomAD, ESP, 1000 Genomes, PolyPhen, SIFT, AlignGVGD, and more.
Laboratory's policy on reporting novel variations Help
All novel VUS's are reported
Alamut, UCSC Genome Browser, gnomAD, ESP, 1000 Genomes, PolyPhen, SIFT, AlignGVGD, and more.
Laboratory's policy on reporting novel variations Help
All novel VUS's are reported
Recommended fields not provided:
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
Consumer resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in 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.