Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000552479.1
Last updated in GTR: 2016-12-29
View version history
GTR000552479.1, last updated: 2016-12-29
Last annual review date for the lab: 2023-04-17
Past due
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At a Glance
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Genetic testing for TP53 may be recommended to individuals with …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Bone marrow
- Buccal swab
- Isolated DNA
- Paraffin block
- Peripheral (whole) blood
- Saliva
Who can order: Help
- Genetic Counselor
- Health Care Provider
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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The test requisition with sample requirements is available on our website. Please contact us at (877)543-9522 or email Vandana Mehta at AskCPM@chla.usc.edu with any questions.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required:
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Decline to answer
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 Order Code,
Test strategy,
Test development
Conditions
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Total conditions: 6
| 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: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Target population:
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Genetic testing for TP53 may be recommended to individuals with a personal and/or family history of , Li-Fraumeni Syndrome, sarcomas, brain tumors, adrenocortical carcinomas, and early-onset breast cancer.
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The analytical sensitivity and specificity is about 99% for these tests
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
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:
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Not provided
Additional Information
Reviews:
Clinical resources:
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.