Classic view of this page
GeneSeq® Cardio Single Gene Analysis
Clinical Genetic Test
Help
offered by
Integrated Genetics Westborough
GTR Test Accession: Help GTR000613284.2
INHERITED DISEASECARDIOVASCULARDYSMORPHOLOGY ... View more
Last updated in GTR: 2024-07-17
View version history
Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (55): Help
Primary dilated cardiomyopathy; Adams-Oliver syndrome; Alstrom syndrome more...
Genes (177): Help
ABCA1 (9q31.1); ABCC9 (12p12.1); ABCG5 (2p21); ABCG8 (2p21); ACTA2 (10q23.31) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: 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
Integrated Genetics Westborough
View lab's website
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 55
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 177
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
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
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 Comments: Help
Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs).
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Estimated analytical sensitivity is >99% for single nucleotide variants and insertions/deletions <45 base pairs. Single exon deletions or duplications can be detected in the DMD gene with estimated overall analytical sensitivity of 96.3%. For all other genes, the assay is designed to detect CNVs involving two or more consecutive coding … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, 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
Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:

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.