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Cardiac channelopathies panel
Clinical Genetic Test
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offered by
Molecular Cardiology Laboratories
GTR Test Accession: Help GTR000569009.2
CARDIOVASCULARINHERITED DISEASESYNDROMIC DISEASE ... View more
Last updated in GTR: 2024-08-13
View version history
Last annual review date for the lab: 2024-08-13 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic; Prognostic; ...
Conditions (9): Help
Congenital long QT syndrome; Acquired long QT syndrome; Andersen Tawil syndrome more...
Genes (33): Help
ABCC9 (12p12.1); AKAP9 (7q21.2); ANK2 (4q25-26); ASPH (8q12.3); CACNA1C (12p13.33) more...
Methods (1): Help
Molecular Genetics - Mutation scanning of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
This genetic testing panel included all major and better known …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Cardiology Laboratories
View lab's website
Specimen Source: Help
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
  • Skin
  • White blood cell prep
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
  • Out-of-State Patients
Contact Policy: Help
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.
How to Order: Help
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 …
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Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: NGS panels (all)
    OrderCode: 91.29.7
Genetic counseling
    OrderCode: 89.01
Test additional service: Help
Custom mutation-specific/Carrier testing
    OrderCode: 91.30.3
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 9
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 33
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Thermo Fisiher IonTorrent
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Prognostic; Risk Assessment; Therapeutic management
Target population: Help
This genetic testing panel included all major and better known genes associated with inherited arrhythmias syndromes occurring in the structurally normal heart. It covers several disorder including: Long QT syndrome, Brugada syndrome,Catecholaminergic Polymorphic Ventricular Tachycardia, Andersen-Tawil syndrome, Timothy syndrome
View citations (3)
  • 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, , Ackerman M, Belhassen B, Estes NA, Fatkin D, Kalman J, Kaufman E, Kirchhof P, Schulze-Bahr E, Wolpert C, Vohra J, Refaat M, Etheridge SP, Campbell RM, Martin ET, Quek SC, , , . Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace. 2013;15(10):1389-406. doi:10.1093/europace/eut272. Epub 2013 Aug 30. PMID: 23994779.
  • Priori SG. Genetic testing to predict sudden cardiac death: current perspectives and future goals. Indian Heart J. 2014;66 Suppl 1(Suppl 1):S58-60. doi:10.1016/j.ihj.2013.11.004. Epub 2013 Dec 22. PMID: 24568831.
  • The usual suspects in sudden cardiac death of the young: a focus on inherited arrhythmogenic diseases. Mazzanti A, et al. Expert Rev Cardiovasc Ther. 2014;12(4):499-519. doi:10.1586/14779072.2014.894884. PMID: 24650315.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
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 cases 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? Help
Yes. Targeted screening of well phenotyped family members is recommended. Targeted sequencing of VUS without clinical information is generally discouraged.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
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? Help
The informed consent includes the possibility of donating samples (anonymised) for research purposes in the context of the European Reference Network on rare diseases GUARD-Heart.
Recommended fields not provided:
Clinical validity, Clinical utility, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
The panel includes all major genes. Results are analysed according to the referral diagnosis. The findings that are unrelated to the referral diagnosis can be reported on request.
Test Confirmation: Help
Putative variants including pathogenetic, likely pathogenetic, VUS are confirmed by standard Sanger sequencing.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The tea accuracy is > 98%. The accuracy for each gene is tested with standard sanger sequencing.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
VUS:
Software used to interpret novel variations Help
SIFT, PolyPhen, PaPi, eVAI

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: Help
Category: FDA exercises enforcement discretion
Additional Information

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.