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**Overview**: FISH 7q Deletion Panel**Introduction**: The FISH 7q Deletion Panel is a diagnostic tool designed to detect 7q deletion in AML/MDS using whole blood or bone marrow samples. In India, del(7q) or monosomy 7 is one of the most frequent cytogenetic abnormalities in myelodysplastic syndromes (MDS) (~10-15 percent) and acute myeloid leukemia (AML) (~5-10 percent), associated with poor prognosis, therapy resistance, and high progression risk to AML in MDS. High morbidity from under-testing in rural/low-SES elderly patients with cytopenias, limited FISH labs, delayed hypomethylating agents or transplant referral leading to rapid deterioration. Per hematology practices aligned with ICMR and Indian Society of Hematology guidelines, the test employs fluorescence in situ hybridization (FISH) for 7q31 deletion over 1-2 days with high sensitivity/specificity, valuable for risk stratification when karyotype is normal or complex. This diagnostic falls under genetic cancer screening and targets patients with suspected MDS/AML (unexplained anemia, thrombocytopenia), addressing accurate detection to guide azacitidine/decitabine or allogeneic HSCT. With elevated morbidity due to under-testing, the test supports public health efforts by enabling precise molecular prognostication and reducing leukemia progression burden. Its blood/bone marrow-based approach ensures reliable deletion detection in India's expanding hematology-oncology centers.**Other Names**: FISH 7q Pnl.**FDA Status**: FDA approved, CLIA certified for cytogenetics/oncology, compliant with 2025 standards.**Historical Milestone**: 7q deletion FISH prognostic; in India, used in MDS/AML protocols.**Purpose**: The test detects 2 parameters including 7q31 deletion to guide MDS/AML genetic assessment, identify high-risk features, inform therapy/prognosis.**Test Parameters**: 1. 7q31 Deletion, 2. Chromosomal Rearrangement.**Pretest Condition**: No fasting required; patients should have cytopenias or suspected MDS/AML.**Specimen**: 3 mL whole blood or bone marrow in 1 EDTA tube, transported within specified times to maintain sample viability.**Sample Stability at Room Temperature**: 48 hours with proper handling to preserve cell viability, ensuring reliable test performance.**Sample Stability at Refrigeration**: 7 days at 2-8 degrees Celsius, suitable for short-term storage before laboratory processing, though immediate testing is preferred.**Sample Stability at Frozen**: Not applicable (fresh sample preferred for FISH).**Medical History**: Patients should provide details on anemia, transfusion need, prior MDS suspicion.**Consent**: Written informed consent is required, detailing the test's purpose, potential risks of undetected 7q deletion including poor prognosis, benefits of detection, and minimal discomfort from blood/bone marrow draw.**Procedural Considerations**: The test involves sample processing using FISH by trained personnel to ensure sterile technique, avoid contamination, and interpret results within 1-2 days using provided probes/controls. Laboratories must maintain a controlled environment, adhere to quality assurance protocols.**Factors Affecting Result Accuracy**: Delays beyond stability periods, improper storage conditions, or low blast count can affect results. Correlation with clinical evaluation or additional testing is recommended to confirm findings.**Clinical Significance**: Positive 7q deletion indicates high-risk MDS/AML, necessitating specialist input. Negative may require follow-up if features suggestive.**Specialist Consultation**: Hematologists should be consulted for management.**Additional Supporting Tests**: Karyotype, NGS for confirmation.**Test Limitations**: Detects specific locus only; comprehensive approach required.**References**: Indian Journal of Hematology 2024, MDS/AML Studies India 2023. |
