Li-Fraumeni Syndrome

Li-Fraumeni syndrome is a highly penetrant, yet rare, condition that predisposes to many tumors. Tumors and cancers frequently occur in childhood, but can also be seen throughout adulthood.

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Test Code: 2862 Test Name: TP53 specific site analysis TAT 7-14 days Gene: 1
Test Code: 2864 Test Name: TP53 del/dup TAT 7-14 days Gene: 1
Test Code: 2866 Test Name: TP53 seq and del/dup TAT 14-21 days Gene: 1

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Mutation Detection Rate

This test can detect >99.9% of described mutations in TP53, when present (analytic sensitivity).

Test Description

TP53 coding exons 1-10 and well into the 5’ and 3’ ends of all the introns and untranslated regions are analyzed by sequencing. Gross deletion/duplication analysis determines gene copy number for coding exons 1-10. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by incorporating the gDNA onto a microfluidics chip, along with primer pairs followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing. Gross deletion/duplication analysis of TP53 using the multiplex ligation-dependent probe amplification (MLPA) kit is also performed.

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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