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:

• Hereditary cancer panel
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Mendelian inherited disorders panel with genome wide CNV analysis
• Sonic hedgehog medulloblastoma panel

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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