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Cardiomyopathy Exome Panel
Clinical Genetic Test
Help
offered by
Northwest Clinical Genomics Laboratory
View lab's test page
LinkOut
GTR Test Accession: Help GTR000551457.3
CAP
INHERITED DISEASEMUSCULOSKELETALCARDIOVASCULAR ... View more
Last updated in GTR: 2022-04-14
View version history
Last annual review date for the lab: 2024-03-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (32): Help
Atrial fibrillation, familial, 12; 3-Methylglutaconic aciduria type 2; Arrhythmogenic right ventricular cardiomyopathy more...
Genes (75): Help
ABCC9 (12p12.1); ACTC1 (15q14); ACTN2 (1q43); ANKRD1 (10q23.31); BAG3 (10q26.11) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Cardiomyopathy
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Northwest Clinical Genomics Laboratory
View lab's website
View lab's test page
Test short name: Help
PDCMPANEL
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
PDCMPANEL
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
Blood and tissue specimens accepted Monday through Friday, 9am - 4pm
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: Clinical Exome Sequencing
Custom Sequence Analysis
Result interpretation
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:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 32
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 75
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)
Illumina HiSeq 4000 system
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Cardiomyopathy
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Each variant is interpreted on an individual basis using techniques such as review of internal and public databases, prior reports in medical literature, sequence conservation, and predicted functional significance. Familial segregation testing to help interpret variants is offered on a case-by-case basis. Variants were assessed for pathogenicity using available information … 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
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Entire test performed in-house
Analytical Validity: Help
Sensitivity of exome panel testing is 98%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations Help
AlignGVGD, PolyPhen-2, SIFT and CADD

Laboratory's policy on reporting novel variations Help
Lab policy on reporting novel variations The lab follows guidelines published as ACMG recommendations of standards for interpretation and reporting of sequence variants. (Richards S et al Genet Med 2015)
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.