Li-Fraumeni Syndrome

HCT, Hereditary Cancer Testing, Germline, Predictive, Hereditary Cancer, TP53, TP53 deletion/duplication analysis, TP53 Sequence analysis
Diagnostic Medical Genetics
Advanced Molecular Genetics
Blood or DNA
LIFS1

Supporting Documents

Other Information

Gene panels include both sequencing and deletion/duplication analysis with the exception of GREM1 and EPCAM which are analyzed for large deletions/duplications only. HOXB13 and APC GAPPS variant analysis will be targeted to known pathogenic variants.

Peripheral blood or DNA (please specify source if DNA)

2 tubes x 4 mL of blood
5 ug of DNA in TRIS-HCl or water only (no EDTA)

EDTA lavender top for blood
Collection Containers – Tube Types
or
2 mL screw top tube for DNA

Collect and ship samples at room temperature on the same day. Samples should be received within 24 to 48 hours.

Room Temperature: 7 days

Next Generation Sequencing

STAT, Routine; Monday to Friday

4 weeks

6-8 weeks

molecularlab.MSH@sinaihealth.ca

Yes if not associated with a Genetic Counsellor

TP53

Samples received and processed Monday to Friday 8:30 am - 4:30 pm

Yes

Hereditary Cancer; Indications outlined by Ontario Health (formerly Cancer Care Ontario); see link in Clinical Significance section

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