Overview: Oncomine JMML Panel Test
Introduction: The Oncomine JMML Panel Test detects juvenile myelomonocytic leukemia (JMML) mutations to diagnose JMML, causing infections or fatigue. Aligned with 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 pediatric patients with suspected JMML.

Other Names: JMML Panel Assay, JMML Mutation Test.

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

Historical Milestone: JMML mutation testing began in the 2000s with RAS pathway discoveries. NGS methods improved in the 2010s, enhancing diagnostic precision.

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

Test Parameters: 1. JMML Mutations

Pretest Condition: No fasting required. Collect whole blood or bone marrow. Report history of infections, fatigue, or JMML 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 JMML. Include current medications, especially chemotherapy agents.

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

Procedural Considerations: Uses next-generation sequencing to detect JMML mutations (e.g., PTPN11, NRAS). Results are available in 3-5 days, supporting clinical decisions. Performed in laboratories, often for JMML diagnosis.

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

Clinical Significance: Identified mutations confirm JMML, guiding stem cell transplant or targeted therapies. Negative results may require bone marrow analysis.

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

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

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

References: ASH JMML Guidelines, 2023; Blood, Caye A, 2022.