GTR Test Accession:
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GTR000607930.1
Registered in GTR:
2023-06-23
View version history
GTR000607930.1,
registered in GTR:
2023-06-23
Last annual review date for the lab: 2024-05-28
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At a Glance
Test purpose:
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Diagnosis;
Therapeutic management
Conditions (1):
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Hormone receptor-positive breast cancer
Genes (1):
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PIK3CA (3q26.32)
Methods (1):
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Molecular Genetics - Targeted variant analysis: PCR with allele specific hybridization
Target population: Help
Identification of hormone receptor positive and human epidermal growth factor …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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PIK3B
Specimen Source:
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- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Test Order Code:
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PIK3B
View other test codes
View other test codes
CPT codes:
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Lab contact:
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Samantha Wiley, CGC, Certified Genetic counselor, CGC, Genetic Counselor
wiley.samantha@mayo.edu
wiley.samantha@mayo.edu
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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https://www.mayocliniclabs.com/test-catalog/overview/614802#Specimen
Order URL
Order URL
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test strategy
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| 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
PCR with allele specific hybridization
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Therapeutic management
Target population:
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Identification of hormone receptor positive and human epidermal growth factor receptor 2 negative (HR+/HER2-) advanced breast cancer tumors that may be eligible for treatment with targeted kinase inhibitor therapy (eg, alpelisib).
View citations (3)
- Bachman KE, Argani P, Samuels Y, Silliman N, Ptak J, Szabo S, Konishi H, Karakas B, Blair BG, Lin C, Peters BA, Velculescu VE, Park BH. The PIK3CA gene is mutated with high frequency in human breast cancers. Cancer Biol Ther. 2004;3(8):772-5. doi:10.4161/cbt.3.8.994. Epub 2004 Aug 26. PMID: 15254419.
- Alpelisib for . André F, et al. N Engl J Med. 2019;380(20):1929-1940. doi:10.1056/NEJMoa1813904. PMID: 31091374.
- André F, Ciruelos EM, Juric D, Loibl S, Campone M, Mayer IA, Rubovszky G, Yamashita T, Kaufman B, Lu YS, Inoue K, Pápai Z, Takahashi M, Ghaznawi F, Mills D, Kaper M, Miller M, Conte PF, Iwata H, Rugo HS. Alpelisib plus fulvestrant for PIK3CA-mutated, hormone receptor-positive, human epidermal growth factor receptor-2-negative advanced breast cancer: final overall survival results from SOLAR-1. Ann Oncol. 2021;32(2):208-217. doi:10.1016/j.annonc.2020.11.011. Epub 2020 Nov 25. PMID: 33246021.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Decline to answer.
Decline to answer.
Will the lab re-contact the ordering physician if variant interpretation changes?
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No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Research:
Is research allowed on the sample after clinical testing is complete?
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Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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A polymerase-chain reaction (PCR)-based assay employing real-time PCR and allele-specific PCR technologies is used to test for 10 mutations within PIK3CA (C420R, E542K, E545A, E545D, E545G, E545K, Q546E, H1047L, H1047R, and H1047Y).(Package insert: therascreen PIK3CA RGQ PCR Kit. Qiagen; 05/2019)
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Test results should be interpreted in context of clinical findings, tumor sampling, and other laboratory data.A polymerase-chain reaction (PCR)-based assay employing real-time PCR and allele-specific PCR technologies is used to test for 10 mutations within PIK3CA. More than 70% of breast cancers are hormone receptor (HR) positive and human epidermal …
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Assay limitations:
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A negative (wildtype) result does not rule out the presence of a mutation that may be present but below the limits of detection of this assay. It also does not rule out the presence of other types of alterations in the PIK3CA gene outside those that the assay was designed …
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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
Alternative Assessment
Description of PT method: Help
Platform covered
Yes
Method used for proficiency testing: Help
Alternative Assessment
Description of PT method: Help
Platform covered
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Consumer resources:
IMPORTANT NOTE:
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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.