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Hereditary Disease Risk Test
Clinical Genetic Test
Help
offered by
Color Diagnostics, LLC DBA Color Health
View lab's test page
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GTR Test Accession: Help GTR000611954.1
NYS CLEP
CAP
INHERITED DISEASESYNDROMIC DISEASECANCER ... View more
Last updated in GTR: 2023-08-31
View version history
Last annual review date for the lab: 2023-08-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Predictive; ...
Conditions (51): Help
Breast and/or ovarian cancer; Aortic aneurysm, familial thoracic, SMAD3 related; Arrhythmogenic right ventricular cardiomyopathy; ...
Genes (59): Help
ACTA2 (10q23.31), ACTC1 (15q14), APC (5q22.2), APOB (2p24.1), ATP7B (13q14.3), ...
Methods (1): 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
Color Diagnostics, LLC DBA Color Health
View lab's website
View lab's test page
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:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 51
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 59
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)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Predictive; Risk Assessment; Screening
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. The presence of a VUS is reported, and the details are available upon request. All VUS and likely pathogenic variants are reviewed bi-annually for updates in the scientific literature. As part of the Color service, we will attempt to recontact the provider and/or the person that was tested if any … View more
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
ACTA2, ACTC1, APC, APOB, ATP7B, BMPR1A, BRCA1, BRCA2, CACNA1S, COL3A1, DSC2, DSG2, DSP, FBN1, GLA, KCNH2, KCNQ1, LDLR, LMNA, MEN1, MLH1, MSH2, MSH6, MUTYH, MYBPC3, MYH11, MYH7, MYL2, MYL3, NF2, OTC, PCSK9, PKP2, PMS2, PRKAG2, PTEN, RB1, RET, RYR1, RYR2, SCN5A, SDHAF2, SDHB, SDHC, SDHD, SMAD3, SMAD4, STK11, TGFBR1, TGFBR2, … View more
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:
Test Confirmation, 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
Category: Not Applicable
NYS CLEP Approval: Help
Number: 69579
Status: Approved
Additional Information
Consumer 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.