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p53 Mutation Analysis by Sequencing

Test Number 489590
Test number copied
CPT 81352
Synonyms
  • CLL

Test Details

Methodology

Samples are enriched for B-cells. Susequently, DNA is isolated from the samples and amplified by polymerase chain reaction (PCR). Exons 5-9 and the flanking intronic regions (-6 and +15) of the TP53 gene are analyzed by bi-directional direct DNA sequencing using capillary gel electrophoresis and fluorescence detection.

Result Turnaround Time

10 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Use

More than 10% of patients with B-CLL have a dysfunctional p53 gene. Patients may have p53 mutations, a p53 deletion, or both. Mutations and deletions in p53 predict poor survival in B-CLL patients (median survival 6-31 months) versus those patients without p53 abnormalities (median survival of patients with normal karyotype >100 months). Several studies have demonstrated that alkylating agents, purine analogs and some monoclonal therapies are ineffective in treating CLL patients with p53 mutations and/or deletions. Finally, chemotherapy can cause p53 gene alterations, can exhibit new alterations of p53.

Limitations

The assay can detect a mutation present in at least 20% of a B-cell-enriched sample. False positive or negative results may occur for reasons that include genetic variants, blood transfusions, or somatic heterogeneity of the tissue sample.

This test was developed and its performance characteristics determined by Esoterix Genetic Laboratories, LLC. It has not been cleared by the Food and Drug Administration.

Specimen Requirements

Specimen

Peripheral blood or bone marrow

Volume

10-20 mL peripheral blood or 2-3 mL bone marrow aspirate

Minimum Volume

1 mL whole blood or 1 mL bone marrow

Container

Lavender-top (EDTA) tube or green-top (heparin) tube

Collection Instructions

Ship specimen with an ice pack. Specimen should arrive in the laboratory within 5-7 days of collection. If specimen is to be stored prior to shipment, store at 2°C to 8°C. Indicate date and time of collection on the request form.

Storage Instructions

Refrigerate.

Causes for Rejection

Specimen does not meet collection criteria: frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen, or otherwise visably degraded; contamination by another specimen; specimens containing suspicious foreign material

References

Olivier M, Eeles R, Hollstein M, Khan MA, Harris CC, Hainaut P. The IARC TP53 database: new online mutation analysis and recommendations to users. Hum Mutat. 2002 Jun;19(6):607-614.12007217
Wattel E, Preudhomme C, Hecquet B, et al. p53 mutations are associated with resistance to chemotherapy and short survival in hematologic malignancies. Blood. 1994 Nov 1;84(9):3148-3157.7949187
Ichikawa A, Kinoshita T, Watanabe T, et al. Mutations of the p53 gene as a prognostic factor in aggressive B-cell lymphoma. N Engl J Med. 1997 Aug 21;337(8):529-534.9262496
Döhner H, Stilgenbauer S, Benner A, et al. Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med. 2000 Dec 28;343(26):1910-1916.11136261
Lozanski G, Heerema NA, Flinn IW, et al. Alemtuzumab is an effective therapy for chronic lymphocytic leukemia with p53 mutations and deletions. Blood. 2004 May 1;103(9):3278-3281.14726385

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
489590 p53 Mutation Analysis/Sequence 489092 Referring Physician N/A
489590 p53 Mutation Analysis/Sequence 489093 Referring Physician Phone N/A
489590 p53 Mutation Analysis/Sequence 489102 Treating Physician N/A
489590 p53 Mutation Analysis/Sequence 489099 Treating Physician Phone N/A
489590 p53 Mutation Analysis/Sequence 489103 Body Site 39111-0
489590 p53 Mutation Analysis/Sequence 489106 Client Specimen ID N/A
489590 p53 Mutation Analysis/Sequence 489105 Specimen(s) Received N/A
489590 p53 Mutation Analysis/Sequence 489076 Clinical Data N/A
489590 p53 Mutation Analysis/Sequence 489094 Testing Performed N/A
489590 p53 Mutation Analysis/Sequence 489077 Results 21739-8
489590 p53 Mutation Analysis/Sequence 489078 Interpretation N/A
489590 p53 Mutation Analysis/Sequence 489079 Comment N/A
489590 p53 Mutation Analysis/Sequence 489107 Disclaimer: N/A
489590 p53 Mutation Analysis/Sequence 489108 Method: N/A
489590 p53 Mutation Analysis/Sequence 489114 References: N/A
489590 p53 Mutation Analysis/Sequence 489084 Electronically Signed By: N/A
489590 p53 Mutation Analysis/Sequence 489098 Reported By: N/A
489590 p53 Mutation Analysis/Sequence 489097 Disclaimer N/A
489590 p53 Mutation Analysis/Sequence 489087 PDF 80563-0
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489092
Result Code NameReferring Physician
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489093
Result Code NameReferring Physician Phone
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489102
Result Code NameTreating Physician
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489099
Result Code NameTreating Physician Phone
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489103
Result Code NameBody Site
UofM
Result LOINC39111-0
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489106
Result Code NameClient Specimen ID
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489105
Result Code NameSpecimen(s) Received
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489076
Result Code NameClinical Data
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489094
Result Code NameTesting Performed
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489077
Result Code NameResults
UofM
Result LOINC21739-8
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489078
Result Code NameInterpretation
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489079
Result Code NameComment
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489107
Result Code NameDisclaimer:
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489108
Result Code NameMethod:
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489114
Result Code NameReferences:
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489084
Result Code NameElectronically Signed By:
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489098
Result Code NameReported By:
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489097
Result Code NameDisclaimer
UofM
Result LOINCN/A
Order Code489590
Order Code Namep53 Mutation Analysis/Sequence
Order Loinc
Result Code489087
Result Code NamePDF
UofM
Result LOINC80563-0