Hereditary Heart Health Test
GTR Test Accession: Help GTR000569049.2
NYS CLEP
CAP
INHERITED DISEASECARDIOVASCULARSYNDROMIC DISEASE ... View more
Last updated in GTR: 2023-08-30
Last annual review date for the lab: 2023-08-30 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Predictive; ...
Hypercholesterolemia, familial, 1; Aneurysm-osteoarthritis syndrome; Aortic aneurysm, familial thoracic, SMAD3 related more...
ACTA2 (10q23.31); ACTC1 (15q14); APOB (2p24.1); COL3A1 (2q32.2); DSC2 (18q12.1) more...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Individuals with or without family history of cardiovascular disease or …
Not provided
Not provided
Ordering Information
Offered by: Help
Color Diagnostics, LLC DBA Color Health
View lab's website
View lab's test page
Test short name: Help
Cardio
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
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
Please see Color website for ordering details (https://www.color.com/).
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Genetic counseling
Result interpretation
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
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 19
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 30
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)
Other
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Predictive; Risk Assessment; Screening
Target population: Help
Individuals with or without family history of cardiovascular disease or familial hypercholesterolemia interested in knowing about their genetic risk for disease.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. As part of the Color service, we will attempt to recontact the provider and/or the person that was tested with any clinically significant updates to the reported results.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Genomic DNA is extracted from the submitted sample, enriched for select regions using a hybridization protocol, and sequenced using Illumina Next Generation Sequencing. Sequence data is aligned to a reference genome, and variants are identified using a suite of bioinformatic tools designed to detect single nucleotide variants, small insertions/deletions, copy … View more
Test Confirmation: Help
Likely pathogenic and pathogenic variants, including single nucleotide variants, insertions and deletions, and structural variants, are confirmed by an alternative technology according to Color’s internal protocols. Certain exceptions apply: variants will not be confirmed if, after testing, there is insufficient DNA available for secondary confirmation, and variants called at high … View more
Test Comments: Help
ACTA2, ACTC1, APOB, COL3A1, DSC2, DSG2, DSP, FBN1, GLA, KCNH2, KCNQ1, LDLR, LMNA, MYBPC3, MYH11, MYH7, MYL2, MYL3, PCSK9, PKP2, PRKAG2, RYR2, SCN5A, SMAD3, TGFBR1, TGFBR2, TMEM43, TNNI3, TNNT2, TPM1
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test detects single nucleotide substitutions, small deletions and insertions, copy number variations, inversions, and mobile element insertions located in the DNA coding sequences, nearby flanking regions and known splice regions in the genes targeted by the Color panel. Our median coverage across our samples is >250X and our minimum … 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:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
NYS CLEP Approval: Help
Number: 69579
Status: Approved
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.