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Tier 1 Hereditary Conditions Test
Clinical Genetic Test
Help
offered by
Color Diagnostics, LLC DBA Color Health
GTR Test Accession: Help GTR000611953.3
NYS CLEP
CAP
INHERITED DISEASECANCERINHERITED DISEASE SUSCEPTIBILITY ... View more
Last updated in GTR: 2024-08-30
View version history
Last annual review date for the lab: 2024-08-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Predictive; ...
Conditions (14): Help
Breast and/or ovarian cancer; Breast and colorectal cancer, susceptibility to; Breast cancer, early-onset more...
Genes (10): Help
APOB (2p24.1); BRCA1 (17q21.31); BRCA2 (13q13.1); EPCAM (2p21); LDLR (19p13.2) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Individuals with or without family history of hereditary cancer or …
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
Specimen Source: Help
  • Peripheral (whole) blood
  • Saliva
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 but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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: 14
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 10
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
Target population: Help
Individuals with or without family history of hereditary cancer or familial hypercholesterolemia interested in knowing their genetic risk for disease.
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Clinical validity, Clinical utility, 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 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
APOB, BRCA1, BRCA2, EPCAM*, LDLR, MLH1, MSH2, MSH6, PMS2, PCSK9
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
College of American Pathologists, CAP
Recommended fields not provided:
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.