Overview: Oncomine CMML Panel Test
Introduction: The Oncomine CMML Panel Test detects chronic myelomonocytic leukemia (CMML) mutations to diagnose CMML, causing infections or fatigue. Following 2023 ASH guidelines, it uses PCR for high specificity, supporting cancer screening. This test is critical for guiding diagnosis, treatment planning, and improving outcomes in hematology for patients with suspected CMML, a myelodysplastic/myeloproliferative neoplasm.

Other Names: CMML Panel Assay, CMML Mutation Test.

FDA Status: Laboratory-developed test (LDT), meeting hematology standards for diagnostic accuracy.

Historical Milestone: CMML mutation testing began in the 2000s with TET2 and ASXL1 discoveries. NGS methods improved in the 2010s, enhancing diagnostic precision.

Purpose: Detects CMML mutations to diagnose chronic myelomonocytic leukemia, guides treatment, and evaluates patients with infections or fatigue.

Test Parameters: 1. CMML Mutations

Pretest Condition: No fasting required. Collect whole blood or bone marrow. Report history of infections, fatigue, or CMML symptoms.

Specimen: Whole Blood (EDTA, 2-5 mL), Bone Marrow (EDTA, 2-5 mL). Transport in a biohazard container.

Sample Stability at Room Temperature: 24 hours

Sample Stability at Refrigeration: 48 hours

Sample Stability at Frozen: Not frozen

Medical History: Document infections, fatigue, splenomegaly, or family history of CMML. Include current medications, especially hypomethylating agents.

Consent: Written consent required, detailing the tests purpose, CMML implications, and risks of sample collection.

Procedural Considerations: Uses next-generation sequencing to detect CMML mutations (e.g., TET2, ASXL1). Results are available in 3-5 days, supporting clinical decisions. Performed in laboratories, often for CMML diagnosis.

Factors Affecting Result Accuracy: Low DNA yield or improper sample storage can affect results. Contamination may reduce specificity.

Clinical Significance: Identified mutations confirm CMML, guiding hypomethylating therapy or stem cell transplant. Negative results may require bone marrow biopsy.

Specialist Consultation: Consult a hematologist or oncologist for result interpretation and treatment planning.

Additional Supporting Tests: Bone marrow biopsy, flow cytometry, or cytogenetic analysis to confirm CMML diagnosis.

Test Limitations: Not all CMML cases have detectable mutations; clinical correlation is needed. Sample quality affects sensitivity.

References: ASH CMML Guidelines, 2023; Blood, Itzykson R, 2022.