GTR Test Accession:
Help
GTR000530667.1
Last updated in GTR: 2016-05-04
View version history
GTR000530667.1, last updated: 2016-05-04
Last annual review date for the lab: 2015-03-06
Past due
LinkOut
At a Glance
Test purpose:
Help
Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (1):
Help
Primary dilated cardiomyopathy
Genes (39):
Help
ABCC9 (12p12.1), ACTA1 (1q42.13), ACTC1 (15q14), ACTN2 (1q43), ALMS1 (2p13.1), ...
Methods (1):
Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Clinical features consistent with dilated cardiomyopathy characterized by an increase …
Clinical validity:
Help
Not provided
Clinical utility:
Help
Establish or confirm diagnosis;
Guidance for management;
Predictive risk information for patient and/or family members
Ordering Information
Offered by:
Help
Specimen Source:
Help
- Isolated DNA
- Peripheral (whole) blood
- Plasma
- Saliva
- Serum
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Physician Assistant
- Public Health Mandate
How to Order:
Help
Test service:
Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Data Storage and Backup
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Data Storage and Backup
Test development:
Help
Test developed by laboratory (no manufacturer test name)
Informed consent required:
Help
Based on applicable state law
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,
Contact policy,
Test strategy
Conditions
Help
Total conditions: 1
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 39
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)
Qiagen QIAcube
Clinical Information
Test purpose:
Help
Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Predictive;
Prognostic
Clinical utility:
Help
Establish or confirm diagnosis
Guidance for management
Predictive risk information for patient and/or family members
Guidance for management
Predictive risk information for patient and/or family members
Target population:
Help
Clinical features consistent with dilated cardiomyopathy characterized by an increase in ventricular volume (mainly of the left ventricle) associated with wall thinning and deterioration of systolic function. It is one of the main causes of heart failure and heart transplantation, and it presents a high risk of cardiac sudden death
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
Help
1-Previously reported or identified in our lab 2-Reported in controls (from our lab, dbSNP, ENSEMBL, NHLBI GO ESP) 3-Functional studies 4-Variant affecting the same domain/close variants 5-Bioinformatics tools
1-Previously reported or identified in our lab 2-Reported in controls (from our lab, dbSNP, ENSEMBL, NHLBI GO ESP) 3-Functional studies 4-Variant affecting the same domain/close variants 5-Bioinformatics tools
Will the lab re-contact the ordering physician if variant interpretation changes?
Help
Yes. We use to inform about any relevant update by e-mail. The update is always included in a new report made for a carrier relative.
Yes. We use to inform about any relevant update by e-mail. The update is always included in a new report made for a carrier relative.
Recommended fields not provided:
Clinical validity,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Confirmation:
Help
Sanger direct sequencing/ PCR
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
This test detects > 99% of substitution variants and small insertions and deletions.
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
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
Own clinical database, SIFT, Polyphen, MutationTaster2, SSF, HSF, MaxEnt, NNSplice
Laboratory's policy on reporting novel variations Help
We inform about them in our test report
Own clinical database, SIFT, Polyphen, MutationTaster2, SSF, HSF, MaxEnt, NNSplice
Laboratory's policy on reporting novel variations Help
We inform about them in our test report
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:
Not Applicable
Additional Information
Clinical resources:
Molecular resources:
Consumer resources:
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.