ASXL1 (additional sex combs like 1, transcriptional regulator) (eg, myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene analysis; targeted sequence analysis (eg, exon 12)
CPT4 code
Name of the Procedure:
ASXL1 (Additional Sex Combs Like 1, Transcriptional Regulator) Gene Analysis; Targeted Sequence Analysis
Summary
ASXL1 gene analysis focuses on examining specific changes (mutations) in the ASXL1 gene, particularly in exon 12. These mutations are linked to certain blood disorders and cancers. The procedure involves analyzing the gene's sequence to identify any abnormalities.
Purpose
ASXL1 gene analysis is used to identify genetic mutations associated with myelodysplastic syndromes, myeloproliferative neoplasms, and chronic myelomonocytic leukemia. The goal is to assist in diagnosing these conditions and to guide treatment decisions.
Indications
- Unexplained anemia or low blood cell counts
- Signs or symptoms of myelodysplastic syndromes
- Diagnosis or management of myeloproliferative neoplasms
- Evaluation of chronic myelomonocytic leukemia
- Patients with persistent, unexplained abnormal blood counts
Preparation
- No specific fasting or dietary restrictions are needed.
- Patients should inform their healthcare provider about all medications they are taking.
- Blood samples or bone marrow samples are typically required.
Procedure Description
- Sample Collection: Blood or bone marrow sample is collected.
- DNA Extraction: DNA is extracted from the collected sample.
- Targeted Sequencing: The DNA is amplified and sequenced, focusing specifically on exon 12 of the ASXL1 gene.
Analysis: The sequenced data is analyzed to identify any genetic mutations in the ASXL1 gene.
No anesthesia or sedation is required for the sample collection, though numbing agents might be used if a bone marrow biopsy is needed.
Duration
The procedure for collecting the sample takes approximately 10-30 minutes. The gene analysis process may take several days to a few weeks, depending on lab processing times.
Setting
- Outpatient clinic
- Hospital laboratory
- Specialized genetic testing facilities
Personnel
- Phlebotomist or nurse for blood sample collection
- Hematologist or oncologist
- Molecular pathologist or geneticist
Risks and Complications
- Sample collection may cause minor discomfort, bruising, or infection at the puncture site.
- Rarely, bone marrow biopsy may lead to bleeding or pain.
Benefits
- Provides definitive genetic information that helps in diagnosing specific blood disorders.
- Aids in tailoring treatment strategies and prognostic evaluation.
- Potential to inform family members about genetic risks.
Recovery
- Patients can return to normal activities immediately after sample collection.
- No specific recovery time required.
- Follow-up appointment may be scheduled to discuss test results.
Alternatives
- Broad genetic panel testing for multiple genes associated with hematologic conditions.
- Whole exome or whole genome sequencing.
- Cytogenetic analysis or flow cytometry. Alternatives may provide broader genetic information but can be more expensive and time-consuming.
Patient Experience
Patients might experience a slight pinch during blood draw or discomfort during bone marrow biopsy. Pain is usually minimal and temporary. They can resume normal activities shortly after the sample collection procedure.