Pan Cardiomyopathy Panel (62 Genes)
GTR Test Accession: Help GTR000509149.12
INHERITED DISEASEMUSCULOSKELETALCARDIOVASCULAR ... View more
Last updated in GTR: 2023-12-04
Last annual review date for the lab: 2023-12-01 LinkOut
At a Glance
Diagnosis
Primary dilated cardiomyopathy; 3-Methylglutaconic aciduria type 2; Angiokeratoma corporis diffusum; ...
ABCC9 (12p12.1), ACTC1 (15q14), ACTN2 (1q43), ANKRD1 (10q23.31), BAG3 (10q26.11), ...
Molecular Genetics - Deletion/duplication analysis: VisCap analysis; ...
Individuals with cardiomyopathy, specifically HCM, DCM, ARVC, LVNC, or RCM.
The detection rate of the Pan Cardiomyopathy Panel is approximately …
Not provided
Ordering Information
Offered by: Help
Laboratory for Molecular Medicine
View lab's website
View lab's test page
Test short name: Help
PCM Panel
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
Contact Policy: Help
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: Help
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Test strategy: Help
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 … View more
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: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 100
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 61
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
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: Help
Diagnosis
Clinical validity: Help
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: Help
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? Help
All VUS's are reported

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. *Please call. Offered on a case-by-case basis.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
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? Help
No
Recommended fields not provided:
Technical Information
Test Procedure: Help
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* … View more
Test Platform:
Agilent SureSelect
Test Confirmation: Help
All clinically significant variants are confirmed by Sanger sequencing or an alternate assay.
Test Comments: Help
The Pan Cardiomyopathy Panel (62 genes) offers comprehensive screening for HCM, DCM, RCM, LVNC, ARVC, and CPVT.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
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: Help
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 … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
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:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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.