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ARVC panel
Clinical Genetic Test
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offered by
Molecular Cardiology Laboratories
View lab's test page
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GTR Test Accession: Help GTR000556531.1
CARDIOVASCULARMUSCULOSKELETAL
Registered in GTR: 2017-08-12
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Last annual review date for the lab: 2024-08-13 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (1): Help
Arrhythmogenic right ventricular cardiomyopathy
Genes (6): Help
DSC2 (18q12.1); DSG2 (18q12.1); DSP (6p24.3); JUP (17q21.2); PKP2 (12p11.21) more...
Methods (2): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
- Subjects with suspect or confirmed diagnosis of ARVC. - …
Clinical validity: Help
Mutations are found in 40-50% of subjects with clinical diagnosis
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Cardiology Laboratories
View lab's website
View lab's test page
Specimen Source: Help
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Saliva
  • White blood cell prep
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
  • Out-of-State Patients
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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Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Genetic counseling
Result interpretation
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 6
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Ion Torrent
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Prognostic; Risk Assessment
Clinical validity: Help
Mutations are found in 40-50% of subjects with clinical diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • 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.

Target population: Help
- Subjects with suspect or confirmed diagnosis of ARVC. - Family members of genetically affected probands. -
View citations (1)
  • 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.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
We check variations against ESV database and our internal database (based on the results of >5000 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 characterization.

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
Recommended fields not provided:
Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Confirmation: Help
Sanger sequencing
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy > 90%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations Help
SIFT, PolyPhen

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, 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.