Test Overview
The entire coding sequences (exons plus at least 15 bp upstream and 15 bp downstream of each coding exon) of the targeted genes are captured, sequenced using NGS and aligned to the human reference genome. A minimum NGS coverage of 20X for all coding exons is achieved. Copy number variation is assessed by coverage depth within the targeted regions compared to a normalized set of controls. Copy number variants within the targeted regions that are of potential clinical significance will be reported. All reported variants of potential clinical significance will be confirmed by a different technology or platform.
Analysis for the presence of TP53 (OMIM:191170) deletions or duplications in patients with a phenotype consistent with Li-Fraumeni syndrome (LFS) (OMIM:151623) or Li-Fraumeni-like syndrome (LFL).
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
This assay will not detect point mutations or frame-shift mutations in the TP53 gene.
Test Details
21 - 28 days
- TP53D
- Li-Fraumeni Syndrome (LFS)
- Li-Fraumeni-Like Syndrome (LFL)
- Sarcoma Family Syndrome of Li and Fraumeni
- SBLA Syndrome
- TP53 Deletion
- TP53 Duplication
Specimen Requirements
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/media/188.
Additional Information
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.