Primbio Breast Cancer Therapy Panel
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000607934.1
Last updated in GTR: 2023-07-07
Last annual review date for the lab: 2023-07-07 LinkOut
At a Glance
Risk Assessment
Breast carcinoma; Breast cancer 3; Breast cancer, familial, susceptibility to, 1; ...
Genes (2): Help
BRCA1 (17q21.31), BRCA2 (13q13.1)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
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Ordering Information
Offered by: Help
PrimBio Research Institute
View lab's website
Specimen Source: Help
  • Bone marrow
  • Buccal swab
  • Cell culture
  • Cell-free DNA
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Plasma
  • Serum
  • Skin
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Out-of-State Patients
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Diana Ye, PhD, Administrator
Jinghua Xu, Administrator
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 contact our lab for ordering information:
Call us at (610) 458-1112 or
Email us at
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Result interpretation
Test additional service: Help
Custom mutation-specific/Carrier testing
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 5
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Ion GeneStudioS5
Clinical Information
Test purpose: Help
Risk Assessment
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
VUS will be reported according to the ACMG STANDARDS AND GUIDELINES: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. The VUS will be reviewed every two years for 2 times.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Tests results will be reviewed every two years. Lab Technical Supervisor will contact the physicians every two years to review the results of re-analysis. A new report will be sent to the doctor regardless of new findings or not.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
20 random clinical samples with known and unknown mutations and 7 cell lines with known mutations were tested and verified using Sanger sequencing. SNPs were called 100% of the time.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Software used to interpret novel variations Help

Laboratory's policy on reporting novel variations Help
Only pathogenic variants will be interpreted, novel variants will be listed in the reports.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
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.