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KCNH2 Gene, entire coding region or targeted variant
Clinical Genetic Test
Help
offered by
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease
GTR Test Accession: Help GTR000556710.2
CAP
INHERITED DISEASECARDIOVASCULARDYSMORPHOLOGY ... View more
Last updated in GTR: 2017-08-25
View version history
Last annual review date for the lab: 2024-06-20 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (2): Help
Short QT syndrome; Congenital long QT syndrome
Genes (1): Help
KCNH2 (7q36.1)
Methods (2): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease
View lab's website
Test short name: Help
KCNH2
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
KCNH2
Lab contact: Help
Julie Amyot, PhD, DEPD, Lab Director
julie.amyot@icm-mhi.org
514-376-3330 ext 3574
How to Order: Help
We accept specimen of peripheral (whole) blood and extracted DNA. For further specifications, contact us.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Manufactured (research use only; not FDA-reviewed)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Contact policy, Test strategy
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Confirmation: Help
Positive results are confirmed on a new DNA preparation using sequence analysis
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Indels and SNVs combined: Sensitivity is of 99.6%, Precision is of 100% . In-house validation of subset of genes, genes that are only included in offered panels, was also done and shows sensitivity of 100% All regions considered of poor quality or under 30X of coverage, are confirmed with Sanger … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
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
Not provided
Additional Information

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