GTR Test Accession:
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GTR000561541.3
Last updated in GTR:
2024-08-13
View version history
GTR000561541.3,
last updated:
2024-08-13
GTR000561541.2,
last updated:
2021-08-03
GTR000561541.1,
registered in GTR:
2020-08-08
Last annual review date for the lab: 2024-08-13
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (4):
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Arrhythmogenic right ventricular cardiomyopathy;
Dilated cardiomyopathy with left ventricular noncompaction;
Primary familial dilated cardiomyopathy
more...
Genes (41):
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Methods (1):
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Molecular Genetics - Mutation scanning of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients with definite diagnosis of hypertrophic cardiomyopathy (HCM) or arrhythmogenic …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Buccal swab
- Buffy coat
- Fibroblasts
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Paraffin block
- Peripheral (whole) blood
- Saliva
- Skin
- White blood cell prep
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Out-of-State Patients
- Physician Assistant
- Public Health Mandate
Contact Policy:
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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.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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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 …
Since the Lab work …
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Genetic counseling
Result interpretation
Confirmation of research findings
Genetic counseling
Result interpretation
Test additional service:
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Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Yes
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 4
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 41
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Ion Torrent
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Predictive;
Prognostic;
Risk Assessment;
Therapeutic management
Target population:
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Patients with definite diagnosis of hypertrophic cardiomyopathy (HCM) or arrhythmogenic right ventricular cardiomyopathy (ARVC), or idiopathic dilated cardiomyopathy (DCM)
View citations (3)
- HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Ackerman MJ, et al. Europace. 2011;13(8):1077-109. doi:10.1093/europace/eur245. PMID: 21810866.
- 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.
- Arrhythmogenic Cardiomyopathy: Pathophysiology Beyond Cardiac Myocytes. Priori SG, et al. Circ Res. 2017;121(12):1296-1298. doi:10.1161/CIRCRESAHA.117.312211. PMID: 29217704.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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We check variations against GnomAd, ESV database and our internal database (based on the results of >8000 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 … View more
We check variations against GnomAd, ESV database and our internal database (based on the results of >8000 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 … 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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Yes. Referring physicians are encouraged to keep a long term contact with the lab. Patients directly followed up at our Clinics are promptly contacted
Yes. Referring physicians are encouraged to keep a long term contact with the lab. Patients directly followed up at our Clinics are promptly contacted
Research:
Is research allowed on the sample after clinical testing is complete?
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Request for research use is in the consent form. Data are used for epidemiological registries and for genotype-phenotype correlaition
Request for research use is in the consent form. Data are used for epidemiological registries and for genotype-phenotype correlaition
Recommended fields not provided:
Clinical validity,
Clinical utility,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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each variant is confirmed by Sanger sequencing
Test Confirmation:
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each variant is confirmed by Sanger sequencing
Availability:
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Tests performed
Entire test performed in-house
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Entire test performed in-house
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity:
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Analytical sensitivity is 98% as calculated with a groups of 100 samples with known variants.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
VUS:
Software used to interpret novel variations
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SIFT, PolyPhen, PaPi
Laboratory's policy on reporting novel variations Help
Variants are reported following the ACMG guidelines
SIFT, PolyPhen, PaPi
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,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical 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.