GTR Test Accession:
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GTR000522304.6
Last updated in GTR: 2021-08-03
View version history
GTR000522304.6, last updated: 2021-08-03
GTR000522304.5, last updated: 2020-08-08
GTR000522304.4, last updated: 2018-08-12
GTR000522304.3, last updated: 2016-09-23
GTR000522304.2, last updated: 2016-08-17
GTR000522304.1, last updated: 2015-04-20
Last annual review date for the lab: 2023-08-09
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (3):
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Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2; Sudden cardiac death
Genes (6):
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CALM1 (14q32.11), CALM2 (2p21), CALM3 (19q13.32), CASQ2 (1p13.1), RYR2 (1q43), ...
Methods (3):
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Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Patients with: 1) confirmed clinical diagnosis of CPVT 2) subjects …
Clinical validity:
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Not provided
Clinical utility:
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Guidance for management
Ordering Information
Offered by:
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Test short name:
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CPVT
Specimen Source:
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- Buffy coat
- Cell culture
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Peripheral (whole) blood
- White blood cell prep
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Out-of-State Patients
- Physician Assistant
- Public Health Mandate
Test Order Code:
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https://www.icsmaugeri.it/cardiologia-molecolare
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 development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Yes
Test strategy:
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1) Sanger sequencing - entire ORF
2) NGS panel with Sanger sequence confirmation of variants.
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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Yes
Recommended fields not provided:
Lab contact for this test
Conditions
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Total conditions: 3
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 6
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 3
Method Category
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Test method
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Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis 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;
Screening;
Therapeutic management
Clinical utility:
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Guidance for management
View citations (1)
- Eur Heart J. 2015 Nov 1;36(41):2793-867. doi: 10.1093/eurheartj/ehv316. Epub 2015 Aug 29. No abstract available. PMID: 26320108
Target population:
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Patients with:
1) confirmed clinical diagnosis of CPVT
2) subjects with cardiac arrest triggered by exercise or acute emotional stress
3) Subjects with unexplained death in normal heart
3) subjects who died suddenly (post mortem samples available) in conditions of exercise or acute emotional stress
View citations (5)
- Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis. Priori SG, et al. Circ Res. 2011;108(7):871-83. doi:10.1161/CIRCRESAHA.110.226845. PMID: 21454795.
- Mazzanti A, Priori SG. Molecular autopsy for sudden unexplained death? Time to discuss pros and cons. J Cardiovasc Electrophysiol. 2012;23(10):1099-102. doi:10.1111/j.1540-8167.2012.02430.x. Epub 2012 Sep 11. PMID: 22966897.
- Napolitano C, Bloise R, Memmi M, Priori SG. Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT). Eur J Hum Genet. 2014;22(1). doi:10.1038/ejhg.2013.55. Epub 2013 Apr 03. PMID: 23549275.
- Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm. 2013;10(12):1932-63. doi:10.1016/j.hrthm.2013.05.014. Epub 2013 Aug 30. PMID: 24011539.
- Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death. Zhong X, et al. Biosci Rep. 2021;41(4). doi:10.1042/BSR20210209. PMID: 33825858.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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We check variations against ESV database, ExAC Database and our internal database (based on the results of >5000 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 … View more
We check variations against ESV database, ExAC Database and our internal database (based on the results of >5000 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 … View more
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes. The lab encourages contacts with referring physicians an family members to assess family members clinical and genetic evaluations. This may substantially improve the intepretation of the results
Yes. The lab encourages contacts with referring physicians an family members to assess family members clinical and genetic evaluations. This may substantially improve the intepretation of the results
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 who are regularly followed up in our outpatient clinics are promptly contacted (if patient request it in the pre-test informed consent)
Yes. Referring physicians are encouraged to keep a long term contact with the lab. Patients who are regularly followed up in our outpatient clinics are promptly contacted (if patient request it in the pre-test informed consent)
Research:
Is research allowed on the sample after clinical testing is complete?
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Yes - anonymized registries (IRB approved)
Yes - anonymized registries (IRB approved)
Recommended fields not provided:
Clinical validity,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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DNA extraction, purification, quantification.
PCR amplification (Sanger), DNA library preparation
Sequencing (Platform-dependent)
Test Confirmation:
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Target NGS panel followed by Bi-direction Sanger sequencing for confirmation. Additional confirmation with Sanger on a second independent sample
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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98% on >1000 samples for Sanger
95% on 100 samples for NGS
View citations (1)
- In house file (ISO9001 certified)
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Description of internal test validation method: Help
Test validation is periodically performed with blind re-analyses
Yes
Method used for proficiency testing: Help
Inter-Laboratory
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Description of internal test validation method: Help
Test validation is periodically performed with blind re-analyses
VUS:
Software used to interpret novel variations
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SIFT, PolyPhen, PaPi\
Laboratory's policy on reporting novel variations Help
The lab follow ACMG guidelines for variant annotation
SIFT, PolyPhen, PaPi\
Laboratory's policy on reporting novel variations Help
The lab follow ACMG guidelines for variant annotation
Recommended fields not provided:
Assay limitations,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Suggested reading:
Clinical 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.