ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) (eg, acquired imatinib tyrosine kinase inhibitor resistance), gene analysis, variants in the kinase domain
CPT4 code
Name of the Procedure:
ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) Gene Analysis for Variants in the Kinase Domain
Commonly known as ABL1 Kinase Domain Mutation Analysis
Summary
This test analyzes the ABL1 gene, specifically looking for changes in the kinase domain that may cause resistance to a cancer treatment drug called imatinib. It is often done for patients with certain types of leukemia.
Purpose
Medical Condition: Chronic myeloid leukemia (CML) or other leukemias.
Goals/Outcomes: To detect mutations that can cause resistance to imatinib, helping doctors to decide on the best treatment plan.
Indications
Symptoms/Conditions: Patients with CML showing signs of treatment failure or resistance to imatinib.
Patient Criteria: Individuals diagnosed with CML who are not responding well to imatinib therapy.
Preparation
Pre-Procedure Instructions: No specific preparations like fasting are usually required.
Diagnostic Tests: A blood sample or bone marrow sample will be needed; routine blood tests may also be performed.
Procedure Description
- Sample Collection: A blood or bone marrow sample is collected from the patient.
- DNA Extraction: DNA is extracted from the collected sample.
- PCR and Sequencing: The extracted DNA is amplified using polymerase chain reaction (PCR) and then sequenced to look for mutations in the ABL1 gene's kinase domain. Tools/Technology: PCR machine, DNA sequencer. Anesthesia/Sedation: Not typically required, unless a bone marrow aspiration is needed, which may involve local anesthesia.
Duration
The entire process from sample collection to results can take about 1-2 weeks.
Setting
Procedure is performed in a specialized laboratory, but sample collection occurs at a hospital, outpatient clinic, or doctor's office.
Personnel
Healthcare Professionals Involved: Phlebotomist or a nurse for sample collection, laboratory technicians and molecular geneticists for analysis.
Risks and Complications
Common Risks: Minor discomfort or bruising at the collection site.
Rare Risks: Infection at the collection site, particularly with bone marrow aspiration.
Benefits
Expected Benefits: Identifying mutations can help doctors switch to a more effective treatment, improving patient outcomes.
Timeline for Benefits: Results usually available within 1-2 weeks, after which treatment adjustments can be made.
Recovery
Post-Procedure Care: Minimal; patients may experience slight soreness at the sample collection site.
Expected Recovery Time: Immediate for blood draw, a few days if bone marrow aspiration.
Follow-Up: Doctor's appointment to discuss results and potential changes in treatment.
Alternatives
Other Treatment Options: Direct trial of alternative medications or chemotherapy regimens without genetic testing.
Pros/Cons: Genetic testing allows for tailored treatment, while skipping it could result in trial-and-error treatment adjustments.
Patient Experience
During Procedure: Minimal discomfort during blood draw; slight discomfort during bone marrow collection if applicable.
After Procedure: Minor bruising or soreness at the sample collection site; generally, no significant pain or lasting discomfort.
Pain Management: Usually not required but can be managed with over-the-counter pain relievers if necessary.