Catecholaminergic Polymoprhic Ventricular Tachycardia
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000522304.6
- Last updated: 2021-08-03
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Catecholaminergic polymorphic ventricular tachycardia 1
Offered by Molecular Cardiology Laboratories
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Catecholaminergic Polymoprhic Ventricular Tachycardia (CPVT)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Pre-symptomatic, Predictive, Prognostic, Risk Assessment, Screening, Therapeutic management
Click Indication tab for more information.
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 in conjunction with an outpatient clinic for inherited arrhythmogenic diseases the test can also be requested directly from the Molecular Cardiology team members.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.icsmaugeri.it/cardiologia-molecolare
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Multiplex Ligation-dependent Probe Amplification (MLPA)
- Applied Biosystems 3730 capillary sequencing instrument
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis
- Applied Biosystems 3730 capillary sequencing instrument
- Ion Torrent
Guidance for management
- Eur Heart J. 2015 Nov 1;36(41):2793-867. doi: 10.1093/eurheartj/ehv316. Epub 2015 Aug 29. No abstract available. PMID: 26320108
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Testing strategy
HelpThe lab's suggested sequence of ordering tests based on clinical scenarios. It may include information on: reflex testing including each test component, and scenarios which prompt additional components of testing; whether lab communicates interim results or automatically proceeds to further analyses; and if any components are performed in another laboratory.1) Sanger sequencing - entire ORF 2) NGS panel with Sanger sequence confirmation of variants. 000 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 in conjunction with an outpatient clinic for inherited arrhythmogenic diseases the test can also be requested directly from the Molecular Cardiology team members.
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- Confirmation of research findings
- Genetic counseling
- Result interpretation
- HRS/EHRA/APHRS, 2013Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.
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