P53 Mutation Analysis
Also known as: CLL
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.
Special Instructions
Not provided.
Limitations
The assay detects mutations present in at least 20% of a B‑cell‑enriched sample. False positives or negatives may arise due to genetic variants, recent blood transfusion, or somatic heterogeneity within the sample. This is a laboratory‑developed test; performance characteristics were determined by Esoterix Genetic Laboratories, LLC, and it has not been cleared by the Food and Drug Administration.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
10‑20 mL peripheral blood
Minimum Volume
1 mL whole blood
Container
Lavender‑top (EDTA) tube or green‑top (heparin) tube
Collection Instructions
Ship specimen with an ice pack; indicate date and time of collection on form
Storage Instructions
Refrigerate; if stored prior to shipment, store at 2 °C to 8 °C; specimen should arrive within 5‑7 days
Causes for Rejection
Frozen whole blood, marrow, or cell pellet; leaking tube; clotted or grossly hemolyzed specimen; visibly degraded; contaminated; suspicious foreign material