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PIK3CA variant detection
Clinical Genetic Test
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offered by
Laboratory for Molecular Pediatric Pathology
View lab's test page
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GTR Test Accession: Help GTR000571365.1
CANCERINHERITED DISEASECONNECTIVE TISSUE ... View more
Last updated in GTR: 2020-02-28
View version history
Last annual review date for the lab: 2024-02-12 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Prognostic; Therapeutic management
Conditions (3): Help
CLOVES syndrome; Glioma; Soft tissue sarcoma
Genes (1): Help
PIK3CA (3q26.32)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Digital microfluidic microspheres
Target population: Help
Somatic activating variants in phosphatidylinositol-3-kinase (PIK3CA) underlie a wide spectrum …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Laboratory for Molecular Pediatric Pathology
View lab's website
View lab's test page
Test short name: Help
PIK3CA
Specimen Source: Help
Who can order: Help
  • Licensed Physician
  • Nurse Practitioner
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Marian Harris, PhD, MD, ABPath, Medical Director
Contact Policy: Help
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: Help
Please, contact the Laboratory for Molecular Pediatric Pathology for ordering information.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Test strategy
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
Digital microfluidic microspheres
Other
Clinical Information
Test purpose: Help
Diagnosis; Prognostic; Therapeutic management
Target population: Help
Somatic activating variants in phosphatidylinositol-3-kinase (PIK3CA) underlie a wide spectrum of partially overlapping, clinically distinct, segmental overgrowth disorders, including CLOVES (congenital lipomatous overgrowth, epidermal nevi, spinal/skeletal anomalies and/or scoliosis) syndrome, Klippel Trenaunay syndrome, FAVAs (fibroadipose vascular anomalies), macrodactyly and muscle hemihypertrophy, megalencephaly syndromes, such as MCAP (megalencephaly-capillary malformation), DMEG (dysplastic … View more
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?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Platform:
Other
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Based on internal validation experiments, variant alleles are considered "detected" if they demonstrate variant fractional abundance ≥1%, "indeterminate" if <1% but ≥0.5%, and "not detected" if <0.5%. Therefore this assay may not detect variants with a very low allele fraction or in samples with a very low tumor percentage. For … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.