Overview: Oncomine MDS Panel Test
Introduction: The Oncomine MDS Panel Test detects myelodysplastic syndrome (MDS) mutations to diagnose MDS, causing anemia 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 MDS.

Other Names: MDS Panel Assay, MDS Mutation Test.

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

Historical Milestone: MDS mutation testing began in the 2000s with TET2 and SF3B1 discoveries. NGS methods improved in the 2010s, enhancing diagnostic precision.

Purpose: Detects MDS mutations to diagnose myelodysplastic syndrome, guides treatment, and evaluates patients with anemia or fatigue.

Test Parameters: 1. MDS Mutations

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

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

Procedural Considerations: Uses next-generation sequencing to detect MDS mutations (e.g., SF3B1, TET2). Results are available in 3-5 days, supporting clinical decisions. Performed in laboratories, often for MDS diagnosis.

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

Clinical Significance: Identified mutations confirm MDS, 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, cytogenetic analysis, or complete blood count to confirm MDS diagnosis.

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

References: ASH MDS Guidelines, 2023; Blood, Bejar R, 2022.