GTR Test Accession:
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GTR000551457.3
CAP
Last updated in GTR: 2022-04-14
View version history
GTR000551457.3, last updated: 2022-04-14
GTR000551457.2, last updated: 2021-03-10
GTR000551457.1, last updated: 2016-10-04
Last annual review date for the lab: 2024-03-28
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (32):
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Atrial fibrillation, familial, 12;
3-Methylglutaconic aciduria type 2;
Arrhythmogenic right ventricular cardiomyopathy
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Genes (75):
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Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Cardiomyopathy
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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PDCMPANEL
Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Test Order Code:
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PDCMPANEL
Contact Policy:
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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:
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Blood and tissue specimens accepted Monday through Friday, 9am - 4pm
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Comment: Clinical Exome Sequencing
Custom Sequence Analysis
Result interpretation
Comment: Clinical Exome Sequencing
Custom Sequence Analysis
Result interpretation
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 32
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 75
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq 4000 system
Clinical Information
Test purpose:
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Diagnosis
Target population:
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Cardiomyopathy
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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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
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?
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Yes.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
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:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Sensitivity of exome panel testing is 98%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
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
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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)
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:
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Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Practice guidelines:
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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.