Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000560519.8
Last updated in GTR: 2023-03-29
Last annual review date for the lab: 2024-03-22 LinkOut
At a Glance
Diagnosis; Pre-symptomatic
Primary dilated cardiomyopathy; 3-Methylglutaconic aciduria type 2; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma more...
ABCC9 (12p12.1); ACTC1 (15q14); ACTN2 (1q43); ALMS1 (2p13.1); ALPK3 (15q25.3) more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
Clinical validity depends on specific clinical and family history.
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
How to Order: Help
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 5555
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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: 138
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 56
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic
Clinical validity: Help
Clinical validity depends on specific clinical and family history.
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Recommended fields not provided:
Technical Information
Test Confirmation: Help
Single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing (Mu W et al. J Mol Diagn. 2016 Oct 4. PubMed PMID: 27720647). Gross deletion/duplication analysis is performed for all genes using a custom pipeline based on read-depth from NGS … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test is designed and validated to be capable of detecting >99% of described mutations in the gene(s) represented.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

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:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
NYS CLEP Approval: Help
Number: 64701
Status: Approved
Additional Information

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