Cardiomyopathies General Panel
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000530674.1
CARDIOVASCULARMUSCULOSKELETAL
Last updated in GTR: 2016-05-04
Last annual review date for the lab: 2015-03-06 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Cardiomyopathy
A2ML1 (12p13.31), AARS2 (6p21.1), ABCC9 (12p12.1), ACAD9 (3q21.3), ACADVL (17p13.1), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Clinical features consistent with cardiomyopathy presentations (hypertrophic, dilated, restrictive, arrhythmogenic, …
Not provided
Establish or confirm diagnosis; Guidance for management; Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Health in Code
View lab's website
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
  • Public Health Mandate
How to Order: Help
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Data Storage and Backup
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 173
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Qiagen QIAcube
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Predictive; Prognostic
Clinical utility: Help
Establish or confirm diagnosis

Guidance for management

Predictive risk information for patient and/or family members

Target population: Help
Clinical features consistent with cardiomyopathy presentations (hypertrophic, dilated, restrictive, arrhythmogenic, and non-compaction). It also includes RASopathies, storage diseases, and some mitochondrial disorders of nuclear DNA origin, which may present a cardiomyopathy as one of the main manifestations.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
1-Previously reported or identified in our lab 2-Reported in controls (from our lab, dbSNP, ENSEMBL, NHLBI GO ESP) 3-Functional studies 4-Variant affecting the same domain/close variants 5-Bioinformatics tools

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. We use to inform about any relevant update by e-mail. The update is always included in a new report made for a carrier relative.
Recommended fields not provided:
Technical Information
Test Confirmation: Help
Sanger direct sequencing/ PCR
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test detects > 99% of substitution variants and small insertions and deletions.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations Help
Own clinical database, SIFT, Polyphen, MutationTaster2, SSF, HSF, MaxEnt, NNSplice

Laboratory's policy on reporting novel variations Help
We inform about them in our test report
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.