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Li-Fraumeni syndrome
Clinical Genetic Test
Help
offered by
Molecular Genetics Laboratory
GTR Test Accession: Help GTR000613341.1
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITYCANCER ... View more
Registered in GTR: 2024-07-22
View version history
Last annual review date for the lab: 2024-07-22 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Risk Assessment; Screening
Conditions (1): Help
Li-Fraumeni syndrome
Genes (1): Help
TP53 (17p13.1)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Meet Ontario Health Hereditary Cancer Testing criteria
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Genetics Laboratory
View lab's website
Test short name: Help
LIFRAU
Manufacturer's name: Help
SOPHiA
Specimen Source: Help
  • Cell culture
  • Fibroblasts
  • Peripheral (whole) blood
  • Saliva
  • Skin
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Test Order Code: Help
LIFRAU
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
Order URL
Test development: Help
Manufactured (research use only; not FDA-reviewed)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
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
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NextSeq 550
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment; Screening
Target population: Help
Meet Ontario Health Hereditary Cancer Testing criteria
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Platform:
SOPHiA DDM CHCS_AA_v1
Test Comments: Help
Sequence and copy number variant analysis
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
sensitivity: ~99%; specficity: 100%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
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.