Test Directory

TP53

Containers - Adult

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Red Cap Tube EDTA KE 2.7ml
Volume Range

5ml peripheral blood or bone marrow specimen

Additive per Container

​EDTA

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FFPE block / H&E slide / Pathology report

Laboratory Site

WGH
Crewe Road South
Edinburgh
EH4 2XU
Telephone: 0131 537 1000

Transport arrangements

Specimens should ideally arrive within 24 hours of collection (maximum of 48 hours) and should be sent to the following address:

 

Western General Hospital

Haematology/Biochemistry Combined Reception

Immunophenotyping Laboratory

Crewe Road

Edinburgh

EH4 2XU​

 

See also Specimen transportation.

Sample storage arrangements

Samples should be store at room temperature. See specimen requirements.

How to request

Please refer to our detailed requesting instructions. The HMDS request form can be located here.

 

Availability

​Monday-Friday 9am-5pm

Anticipated turnaround

​Results should be expected within 15 working days. See results.

What happens if the result is positive or abnormal

​Requesting clinician will be contacted via telephone or email. Please ensure details are included on request form.

Static information/disclaimer

For assessment of TP53 loss (del17p) by FISH, please refer to the South East Scotland Cytogenetics Service.

CLL samples contain a mixture of leukaemia and non-leukaemia cells.  Since TP53 mutations are acquired within leukaemia cells, they will not be present within non-CLL cells within the sample. Therefore, it is important to be aware of the approximate percentage of leukaemia cells within the sample. The assay carries a limit of detection of 15% and therefore a low level TP53 mutation may not be detected by this approach.

For samples with a likely low level leukaemia percentage, Lymphoprep isolation of mononuclear cells will be performed. Hence, please inform the laboratory, where possible, of the total lymphocyte count and total white cell count in the sample

General additional information

​TP53 mutation assessment is performed using Sanger sequencing to assess and identify sequence variants in exons 2a, 2d, 3, 4b, 5, 6, 7, 8, 10 and 11 of the TP53 gene (LRG_321 specific exon numbering). In most cases, a TP53 mutation is associated with loss of chromosome 17p [del17p]. However, some patients may carry a TP53 mutation without accompanying loss of chromosome 17p. Mutations in the TP53 gene are associated with chemotherapy resistance and poor prognosis in patients with CLL.

Assessment of the IGHV mutation status can also be performed.

This test is accredited to ISO 15189:2012

For clinical advice on appropriate investigations and advice for the interpretation of test results, please contact us​.