Laboratory Test Information Guide

Details for P53 Carrier Testing

Test Name: P53 Carrier Testing
Alternate Name(s): Li-Fraumeni Syndrome
Laboratory: Molecular Diagnostics
Specimen Type: Whole blood-2 x 4 mL Lavender EDTA top Vacutainer tube
Collection Information: Blood samples must be maintained at room temperature.
Test Schedule: As Required
Monday - Friday
0800 - 1600 h
Turnaround time from when specimen
is received in testing laboratory:
3 months
Reference Range: See report
Effective Date:  
Revised Date: 2021-05-14
Critical Value: N/A
Interpretive Comments: Germline mutations of the p53 gene are associated with Li-Fraumeni Syndrome, a rare autosomal dominant disorder characterized by a wide spectrum of tumours sarcomas, breast carcinomas, brain tumours and adrenocortical carcinomas. In most of the cases, tumours will develop in children and young adults. Germline p53 mutations are mostly missense mutations most commonly (>90%)1,2 found within the DNA-binding domain of the p53 gene which is coded for by exons 5 through 8, and which can inactivate the transcriptional activity of the protein These mutations can be identified by direct sequence analysis of PCR-amplified p53 gene coding sequence (exons) using genomic DNA derived from peripheral blood leukocytes as a template.


1. Frebourg T. "Germline mutations of the p53 gene" Pathol Biol (Paris). 1997 Dec;45(10):845-51.
2. p53 mutation database
Special Processing:  
Comments: For more information click on:
Molecular Diagnostic Laboratory
Method of Analysis: DNA Sequence Analysis
Critical Information Required: Pedigree required
Storage & Shipment: Must be received within 5 days of collection, shipped at room temperature by courier/overnight collection.
System Codes: 
Referred To:  

Questions? Comments? Contact Laura Gopaul