Li-Fraumeni syndrome

TP53 - Li-Fraumeni syndrome

This test is available for the following conditions:

• Conditions > Oncogenetics > Li-Fraumeni syndrome

This product is also part of the following panels:

• WES hereditary cancer (94.7% *)
• WES inherited bone marrow failure and/or predisposition to hematological malignancies (94.7% *)
• WES Mendelian inherited disorders (94.7% *)
• WES sonic hedgehog medulloblastoma (94.7% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Deletion/duplication analysis (MLPA)

OMIM: 191170
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA, Buccal mucous membrane

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