GTR Test Accession:
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GTR000607868.2
NYS CLEP
CAP
Last updated in GTR:
2024-04-02
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GTR000607868.2,
last updated:
2024-04-02
GTR000607868.1,
registered in GTR:
2023-05-18
Last annual review date for the lab: 2024-04-08
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At a Glance
Methods (1):
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Molecular Genetics - Targeted variant analysis: RT-qPCR
Target population: Help
Quantigen's COR120 Comprehensive Pharmacogenetic Test is designed to provide guidance …
Clinical validity:
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Genetically-guided (precision) cardiac medication prescribing is a rapidly evolving technological …
Clinical utility:
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Guidance for management
Ordering Information
Offered by:
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Test short name:
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COR120
Specimen Source:
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- Buccal swab
- Saliva
Who can order: Help
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
Lab contact:
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Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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Quantigen Laboratory is reference lab that is contracted by Coriell. Coriell provided the following information: Interested individuals must complete an eligibility check and enrollment form to order a test. That enrollment form is then reviewed by an independent physician network to authorize the test. If approved, a sample collection kit …
Order URL
Test service:
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Pharmacogenetic Testing
Comment: MOLDX Code
OrderCode: ZB46Y
Comment: MOLDX Code
OrderCode: ZB46Y
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Yes
Test strategy:
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Health care provider orders test through third party. The third party uploads the requisition to the LIMs (Orchard). The patient sample and consent form is comes through the mail. The data is generated in the lab and the reports are sent through the LIMs back to the third party. The …
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Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test Order Code
Conditions
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Total conditions: 108
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 10
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Targeted variant analysis
RT-qPCR
QuantStudio 12K Flex System
Clinical Information
Test purpose:
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Drug Response
Clinical validity:
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Genetically-guided (precision) cardiac medication prescribing is a rapidly evolving technological frontier. It offers hope for reducing trial-and-error prescribing, thereby enhancing patient outcomes. Given the global burden of cardiovascular conditions, better therapeutic approaches are a global health and economics priority.
Clinical utility:
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Target population:
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Quantigen's COR120 Comprehensive Pharmacogenetic Test is designed to provide guidance to caregivers in creating and/or modifying their patient's prescription drug regimen, based on the patient's genetic status for several clinically relevant pharmacogenetics-associated genes.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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N/A
N/A
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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N/A
N/A
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. We are a reference contracted by Coriell. Coriell has provided the following information: Regular reassessment of genetic test results is an integral aspect of the process—it allows for the incorporation of any new research or knowledge that may impact the interpretation of the results. To this end, our system automatically … View more
Yes. We are a reference contracted by Coriell. Coriell has provided the following information: Regular reassessment of genetic test results is an integral aspect of the process—it allows for the incorporation of any new research or knowledge that may impact the interpretation of the results. To this end, our system automatically … View more
Research:
Is research allowed on the sample after clinical testing is complete?
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No, samples are stored and disposed of after a certain period of time. The samples are only used for the clinical testing.
No, samples are stored and disposed of after a certain period of time. The samples are only used for the clinical testing.
Sample reports:
Sample Negative Report
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Sample Negative Report
Sample Positive Report Help
Sample Positive Report
Sample Negative Report
Sample Positive Report Help
Sample Positive Report
Recommended fields not provided:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
Technical Information
Test Procedure:
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The PGx testing is performed at Quantigen with the following steps: accession, sample extraction, PCR PreAmp, Dilution of PCR PreAmp & preparation of 384-well plate, load OpenArray Chip using Accufill, run OpenArray on QuantStudio 12K Flex, Genotyping-data analysis, and report generation using LIMS.
Test Platform:
Life Technologies TaqMan OpenArray MicroRNA Panels
Test Confirmation:
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Positive predictive value, defined as the probability that subjects with a positive screening test have the disease, is not applicable re not applicable to these LDTs, as they are used only to guide drug treatments, but not to detect disease.
Test Comments:
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The clinical characteristic most relevant to our LDTs is their predictive value for determining which patients will respond to optimized drug treatments. Currently, we utilize the clinical genomics company Translational Software (Bellvue, WA), and the Coriell Institute for Medical Research (Camden, NJ) to correlate genotypic data with clinical outcomes.
Availability:
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Tests performed
Entire test performed in-house
Test performance comments
The entire test is performed at Quantigen.
Entire test performed in-house
Test performance comments
The entire test is performed at Quantigen.
Analytical Validity:
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All 62 LDTs performed well in the assay validation studies. High levels of accuracy and precision were observed for all LDTs, with most displaying 100% accuracy and precision. Genetically defined reference standards were used for accuracy testing, and results generated by a partner laboratory were included for precision, further strengthening …
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View citations (15)
- Validation of KRAS testing for anti-EGFR therapeutic decisions for patients with metastatic colorectal carcinoma. Kamel-Reid S, et al. Arch Pathol Lab Med. 2012;136(1):26-32. doi:10.5858/arpa.2011-0220-OA. PMID: 22208484.
- Aweeka FT, Hu C, Huang L, Best BM, Stek A, Lizak P, Burchett SK, Read JS, Watts H, Mirochnick M, Capparelli EV, . Alteration in cytochrome P450 3A4 activity as measured by a urine cortisol assay in HIV-1-infected pregnant women and relationship to antiretroviral pharmacokinetics. HIV Med. 2015;16(3):176-83. doi:10.1111/hiv.12195. Epub 2014 Nov 18. PMID: 25407158.
- Liu R, Zhou ZY, Chen YB, Li JL, Yu WB, Chen XM, Zhao M, Zhao YQ, Cai YF, Jin J, Huang M. Associations of CYP3A4, NR1I2, CYP2C19 and P2RY12 polymorphisms with clopidogrel resistance in Chinese patients with ischemic stroke. Acta Pharmacol Sin. 2016;37(7):882-8. doi:10.1038/aps.2016.41. Epub 2016 May 02. PMID: 27133299.
- Zhu WY, Zhao T, Xiong XY, Li J, Wang L, Zhou Y, Gong ZL, Cheng SY, Liu Y, Shuai J, Yang QW. Association of CYP2C19 Polymorphisms with the Clinical Efficacy of Clopidogrel Therapy in Patients Undergoing Carotid Artery Stenting in Asia. Sci Rep. 2016;6:25478. doi:10.1038/srep25478. Epub 2016 May 03. PMID: 27137706.
- Zhou LY, Zuo XC, Chen K, Wang JL, Chen QJ, Zhou YN, Yuan H, Ma Y, Zhu LJ, Peng YX, Ming YZ. Significant impacts of CYP3A4*1G and CYP3A5*3 genetic polymorphisms on the pharmacokinetics of diltiazem and its main metabolites in Chinese adult kidney transplant patients. J Clin Pharm Ther. 2016;41(3):341-7. doi:10.1111/jcpt.12394. Epub 2016 May 05. PMID: 27149910.
- Dilge Taşkın B, Kula S, Ergün MA, Altun D, Olguntürk R, Tunaoğlu FS, Oğuz AD, Gürsel T. The effect of CYP2C9 and VKORC1 genetic polymorphisms on warfarin dose requirements in a pediatric population. Anatol J Cardiol. 2016;16(10):791-796. doi:10.14744/AnatolJCardiol.2015.6150. Epub 2016 Jan 25. PMID: 27182616.
- Yamashita T, Fujishima N, Miura M, Niioka T, Abumiya M, Shinohara Y, Ubukawa K, Nara M, Fujishima M, Kameoka Y, Tagawa H, Hirokawa M, Takahashi N. Effects of CYP3A5 polymorphism on the pharmacokinetics of a once-daily modified-release tacrolimus formulation and acute kidney injury in hematopoietic stem cell transplantation. Cancer Chemother Pharmacol. 2016;78(1):111-8. doi:10.1007/s00280-016-3060-4. Epub 2016 May 23. PMID: 27217047.
- Effects of Genetic Polymorphism in CYP3A4 and CYP3A5 Genes on Tacrolimus Dose Among Kidney Transplant Recipients. Yousef AM, et al. Iran J Kidney Dis. 2016;10(3):156-63. PMID: 27225724.
- Hertz DL, Deal A, Ibrahim JG, Walko CM, Weck KE, Anderson S, Magrinat G, Olajide O, Moore S, Raab R, Carrizosa DR, Corso S, Schwartz G, Graham M, Peppercorn JM, Jones DR, Desta Z, Flockhart DA, Evans JP, McLeod HL, Carey LA, Irvin WJ. Tamoxifen Dose Escalation in Patients With Diminished CYP2D6 Activity Normalizes Endoxifen Concentrations Without Increasing Toxicity. Oncologist. 2016;21(7):795-803. doi:10.1634/theoncologist.2015-0480. Epub 2016 May 25. PMID: 27226358.
- Yi X, Wang Y, Lin J, Cheng W, Zhou Q, Wang C. Interaction of CYP2C19, P2Y12, and GPIIIa Variants Associates With Efficacy of Clopidogrel and Adverse Events on Patients With Ischemic Stroke. Clin Appl Thromb Hemost. 2017;23(7):761-768. doi:10.1177/1076029616648408. Epub 2016 May 27. PMID: 27233747.
- Warfarin Pharmacogenetics Reevaluated: Subgroup Analysis Reveals a Likely Underestimation of the Maximum Pharmacogenetic Benefit by Clinical Trials. Stack G, et al. Am J Clin Pathol. 2016;145(5):671-86. doi:10.1093/ajcp/aqw049. PMID: 27247371.
- Hertz DL, Rae JM. One step at a time: CYP2D6 guided tamoxifen treatment awaits convincing evidence of clinical validity. Pharmacogenomics. 2016;17(8):823-6. doi:10.2217/pgs-2016-0059. Epub 2016 Jun 01. PMID: 27249031.
- CYP2D6 function moderates the pharmacokinetics and pharmacodynamics of 3,4-methylene-dioxymethamphetamine in a controlled study in healthy individuals. Schmid Y, et al. Pharmacogenet Genomics. 2016;26(8):397-401. doi:10.1097/FPC.0000000000000231. PMID: 27253829.
- Effect of CYP2C9 and VKORC1 Gene Variants on Warfarin Response in Patients with Continuous-Flow Left Ventricular Assist Devices. Topkara VK, et al. ASAIO J. 2016;62(5):558-64. doi:10.1097/MAT.0000000000000390. PMID: 27258224.
- Effect of VKORC1, CYP2C9, CFP4F2, and GGCX Gene Polymorphisms on Warfarin Dose in Japanese Pediatric Patients. Wakamiya T, et al. Mol Diagn Ther. 2016;20(4):393-400. doi:10.1007/s40291-016-0212-5. PMID: 27262824.
Assay limitations:
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This test will not detect all the known alleles that result in altered or inactive tested genes. This test does not account for all individual variations in the individual tested. Absence of a detectable gene mutation does not rule out the possibility that a patient has different phenotypes due to …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
Description of PT method: Help
CAP routinely sends a kit with blinded samples. The samples are treated as if there were patient samples. The blinded samples are tested and reported. The results are documented in the CAP paper work and website. We receive the answers, answer the educational questions, and write a reports.
Description of internal test validation method: Help
On a semi annual basis, a set of controls are ran on all the instruments used for PGx testing. The samples are analyzed for concordance. Any discordance is documented. A report is made to show the correlation results.
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
Description of PT method: Help
CAP routinely sends a kit with blinded samples. The samples are treated as if there were patient samples. The blinded samples are tested and reported. The results are documented in the CAP paper work and website. We receive the answers, answer the educational questions, and write a reports.
Description of internal test validation method: Help
On a semi annual basis, a set of controls are ran on all the instruments used for PGx testing. The samples are analyzed for concordance. Any discordance is documented. A report is made to show the correlation results.
VUS:
Software used to interpret novel variations
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N/A
Laboratory's policy on reporting novel variations Help
N/A
N/A
Laboratory's policy on reporting novel variations Help
N/A
Recommended fields not provided:
Citations to support assay limitations,
Citations to support internal test validation method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
NYS CLEP Approval:
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Number:
9406
Status: Approved
Status: Approved
Additional Information
Suggested reading:
Clinical resources:
Practice guidelines:
Consumer resources:
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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.