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Targeted Cardiomyopathy panel
Clinical Genetic Test
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offered by
Molecular Cardiology Laboratories
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GTR Test Accession: Help GTR000561541.2
CARDIOVASCULARMUSCULOSKELETALINHERITED DISEASE ... View more
Last updated in GTR: 2021-08-03
View version history
Last annual review date for the lab: 2023-08-09 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (4): Help
Arrhythmogenic right ventricular cardiomyopathy; Dilated cardiomyopathy with left ventricular noncompaction; Primary familial dilated cardiomyopathy; ...
Genes (41): Help
ACTN2 (1q43), ANKRD1 (10q23.31), BAG3 (10q26.11), CSRP3 (11p15.1), DES (2q35), ...
Methods (1): Help
Molecular Genetics - Mutation scanning of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients with definite diagnosis of hypertrophic cardiomyopathy (HCM) or arrhythmogenic …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Cardiology Laboratories
View lab's website
View lab's test page
Specimen Source: Help
  • Buccal swab
  • Buffy coat
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Saliva
  • Skin
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Out-of-State Patients
  • Physician Assistant
  • Public Health Mandate
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Tests can be referred to the lab either directly by patient/family or by referring physician. The first step will be to contact the Genetic counselor or the medical director of the lab to have detailed instruction that vary upon the specific test that is requested.
Since the Lab work …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Genetic counseling
Result interpretation
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 41
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Ion Torrent
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Predictive; Prognostic; Risk Assessment; Therapeutic management
Target population: Help
Patients with definite diagnosis of hypertrophic cardiomyopathy (HCM) or arrhythmogenic right ventricular cardiomyopathy (ARVC), or idiopathic dilated cardiomyopathy (DCM)
View citations (3)
  • HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Ackerman MJ, et al. Europace. 2011;13(8):1077-109. doi:10.1093/europace/eur245. PMID: 21810866.
  • Arrhythmogenic Right Ventricular Cardiomyopathy: Clinical Course and Predictors of Arrhythmic Risk. Mazzanti A, et al. J Am Coll Cardiol. 2016;68(23):2540-2550. doi:10.1016/j.jacc.2016.09.951. PMID: 27931611.
  • Arrhythmogenic Cardiomyopathy: Pathophysiology Beyond Cardiac Myocytes. Priori SG, et al. Circ Res. 2017;121(12):1296-1298. doi:10.1161/CIRCRESAHA.117.312211. PMID: 29217704.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
We check variations against GnomAd, ESV database and our internal database (based on the results of >8000 tests). Family screening for genotype-phenotype co-segregation analysis is the second step. If required we also run a panel of race-matched controls. In specific case we perform in vitro expression of mutants with functional … View more

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Referring physicians are encouraged to keep a long term contact with the lab. Patients directly followed up at our Clinics are promptly contacted
Research:
Is research allowed on the sample after clinical testing is complete? Help
Request for research use is in the consent form. Data are used for epidemiological registries and for genotype-phenotype correlaition
Recommended fields not provided:
Clinical validity, Clinical utility, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
each variant is confirmed by Sanger sequencing
Test Confirmation: Help
each variant is confirmed by Sanger sequencing
Availability: Help
Tests performed
Entire test performed in-house
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity: Help
Analytical sensitivity is 98% as calculated with a groups of 100 samples with known variants.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
SIFT, PolyPhen, PaPi

Laboratory's policy on reporting novel variations Help
Variants are reported following the ACMG guidelines
Recommended fields not provided:
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: 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.