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Arrhythmogenic Right Ventricular Cardiomyopathy panel
Clinical Genetic Test
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offered by
Clinical Genomics Laboratory
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GTR Test Accession: Help GTR000522203.3
MUSCULOSKELETALCARDIOVASCULAR
Last updated in GTR: 2022-04-08
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Last annual review date for the lab: 2024-05-22 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Prognostic; Therapeutic management
Conditions (1): Help
Arrhythmogenic right ventricular cardiomyopathy
Genes (17): Help
CDH2 (18q12.1); DES (2q35); DSC2 (18q12.1); DSG2 (18q12.1); DSP (6p24.3) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Individuals clinically diagnosed with ARVC or a cardiomyopathy
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Clinical Genomics Laboratory
View lab's website
View lab's test page
Test short name: Help
ARVC
Specimen Source: Help
  • Buccal swab
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Licensed Physician
  • Nurse Practitioner
Lab contact: Help
Meagan Corliss, Genetic Counselor
mcorliss@path.wustl.edu
314-747-7337
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
To order a test, complete and submit a requisition form that can be found on our website (gps.wustl.edu)
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
Test strategy: Help
Testing is performed by exome capture of the coding regions of relevant genes followed by next generation sequencing to detect small sequence variants. Starred tests (*) include additional testing for deletions and duplications by an alternate methodology (aCGH) when sequencing does not identify genetic variation consistent with a molecular diagnosis. … View more
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, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 17
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Prognostic; Therapeutic management
Target population: Help
Individuals clinically diagnosed with ARVC or a cardiomyopathy
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab

Test performance comments
aCGH testing for the DSP and PKP2 genes is performed at an outside CAP/CLIA laboratory when sequencing does not identify any disease causing alterations.
Analytical Validity: Help
HapMap Sensitivity Specificity PPV NA19129 100.00% 100.00% 100.00% NA12878 100.00% 100.00% 100.00% NA19240 100.00% 100.00% 96.43%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment

PT Provider: Help
Inter-Laboratory
Recommended fields not provided:
Test Confirmation, 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
Not provided
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.