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26480 Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9, Varies (P53CA)

Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9, Varies (P53CA)
Test Code: P53CASO
Synonyms/Keywords

​TP53, P53,CLL, BCLL

Useful For

Evaluating chronic lymphocytic leukemia patients at diagnosis or during disease course for the presence of TP53 gene variants indicating high risk of disease progression and adverse outcomes

This test is not intended for the evaluation of patients suspected of having an inherited or germline TP53 cancer syndrome (eg, Li Fraumeni syndrome)

HIGHLIGHTS:

This test is complementary to fluorescence in situ hybridization (FISH) analysis for the 17p- abnormality but more appropriately identifies the presence of variant alteration and gene inactivation in tumor cells.

Specimen Requirements
Specimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​ ​ ​Submit only 1 of the following specimens
​Whole Blood (preferred)EDTA Lavender Top Tube (LTT)​​ACD Yellow Top Tube (solution B)​3 mL​1 mL
​Bone Marrow​EDTA Lavender Top Tube (LTT)​ACD Yellow Top Tube (solution B) or Heparin Green Top Tube (GTT)​3 mL​1 mL
​Tissue​Plastic Container​100 mg
Collection Processing Instructions

Blood and bone marrow specimens must arrive within 10 days of collection.

NECESSARY INFORMATION

The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date of collection

4. Specimen source

Stabilize fresh tissue in tissue culture medium or freeze immediately after collection.

Specimen Stability Information
Specimen TypeTemperatureTime
​Whole Blood ​​Ambient​<10 days
​Refrigerate​<10 days
​Bone Marrow ​​Ambient​<10 days
​Refrigerate​<10 days
​Tissue ​​Refrigerate​24 hours
​Frozen
Rejection Criteria

Gross hemolysis

​Extracted DNA
​Moderately to severely clotted
Interference

​This test will not detect all possible acquired variants in the TP53 gene because it is restricted to analyzing exons 4 to 9. However, this region encompasses more than 90% of described pathologic variants and covers the coding exons of the critical DNA binding regions.

The analytical sensitivity of the assay can be affected by the absolute B-cell number in the peripheral blood or tissue sample, as well as the often subclonal nature of this tumor genetic abnormality. The assay attempts to compensate in part for this by performing an initial screening flow cytometry to assess B-cell quantity and by performing the cell enrichment step (for the peripheral blood specimens only) to isolate relatively pure CD19+ B-cells for analysis. Nevertheless, the nature of the Sanger sequencing method is such that typical reproducible analytic sensitivity will be in the order of 25% variant allele burden.

Because optimal cell enrichment is dependent on the absolute B-cell quantity, samples with a very low WBC or initial percentage of B cells (determined from flow cytometry or WBC automated cell count) will likely result in poor assay performance and inability to detect possible TP53 gene variants in the tumor population.

Performing Laboratory Information
Performing LocationDay(s) Test PerformedReport AvailableMethodology/Instrumentation
​Mayo Clinic Laboratories​Monday through Friday​7 to 14 days​Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reference Lab
Reference Range Information
Performing LocationReference Range
​Mayo Clinic Laboratories​Genetic variants present or absent as compared to a reference sequence of the normal TP53 gene
Interpretation

​Results are reported in standard nomenclature according to the most recent Human Genome Variation Society (HGVS) recommendations and an interpretive comment regarding the nature of the sequence variant (eg, known deleterious, suspected deleterious, synonymous change) will be included to complete the clinical report.

Outreach CPTs
CPTModifier
(if needed)
QuantityDescriptionComments
​81352
​88184​1​CSP53​If needed
​88185​4​CSP53​If needed
Synonyms/Keywords

​TP53, P53,CLL, BCLL

Ordering Applications
Ordering ApplicationDescription
​COM​TP53 Somatic MutationExons 4-9 (P53CA)
​Cerner​Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9, Varies (P53CA)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​ ​ ​Submit only 1 of the following specimens
​Whole Blood (preferred)EDTA Lavender Top Tube (LTT)​​ACD Yellow Top Tube (solution B)​3 mL​1 mL
​Bone Marrow​EDTA Lavender Top Tube (LTT)​ACD Yellow Top Tube (solution B) or Heparin Green Top Tube (GTT)​3 mL​1 mL
​Tissue​Plastic Container​100 mg
Collection Processing

Blood and bone marrow specimens must arrive within 10 days of collection.

NECESSARY INFORMATION

The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date of collection

4. Specimen source

Stabilize fresh tissue in tissue culture medium or freeze immediately after collection.

Specimen Stability Information
Specimen TypeTemperatureTime
​Whole Blood ​​Ambient​<10 days
​Refrigerate​<10 days
​Bone Marrow ​​Ambient​<10 days
​Refrigerate​<10 days
​Tissue ​​Refrigerate​24 hours
​Frozen
Rejection Criteria

Gross hemolysis

​Extracted DNA
​Moderately to severely clotted
Interference

​This test will not detect all possible acquired variants in the TP53 gene because it is restricted to analyzing exons 4 to 9. However, this region encompasses more than 90% of described pathologic variants and covers the coding exons of the critical DNA binding regions.

The analytical sensitivity of the assay can be affected by the absolute B-cell number in the peripheral blood or tissue sample, as well as the often subclonal nature of this tumor genetic abnormality. The assay attempts to compensate in part for this by performing an initial screening flow cytometry to assess B-cell quantity and by performing the cell enrichment step (for the peripheral blood specimens only) to isolate relatively pure CD19+ B-cells for analysis. Nevertheless, the nature of the Sanger sequencing method is such that typical reproducible analytic sensitivity will be in the order of 25% variant allele burden.

Because optimal cell enrichment is dependent on the absolute B-cell quantity, samples with a very low WBC or initial percentage of B cells (determined from flow cytometry or WBC automated cell count) will likely result in poor assay performance and inability to detect possible TP53 gene variants in the tumor population.

Useful For

Evaluating chronic lymphocytic leukemia patients at diagnosis or during disease course for the presence of TP53 gene variants indicating high risk of disease progression and adverse outcomes

This test is not intended for the evaluation of patients suspected of having an inherited or germline TP53 cancer syndrome (eg, Li Fraumeni syndrome)

HIGHLIGHTS:

This test is complementary to fluorescence in situ hybridization (FISH) analysis for the 17p- abnormality but more appropriately identifies the presence of variant alteration and gene inactivation in tumor cells.

Reference Range Information
Performing LocationReference Range
​Mayo Clinic Laboratories​Genetic variants present or absent as compared to a reference sequence of the normal TP53 gene
Interpretation

​Results are reported in standard nomenclature according to the most recent Human Genome Variation Society (HGVS) recommendations and an interpretive comment regarding the nature of the sequence variant (eg, known deleterious, suspected deleterious, synonymous change) will be included to complete the clinical report.

For more information visit:
Performing Laboratory Information
Performing LocationDay(s) Test PerformedReport AvailableMethodology/Instrumentation
​Mayo Clinic Laboratories​Monday through Friday​7 to 14 days​Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPTModifier
(if needed)
QuantityDescriptionComments
​81352
​88184​1​CSP53​If needed
​88185​4​CSP53​If needed
For most current information refer to the Marshfield Laboratory online reference manual.