5q Deletion/Monosomy (MDS), Heparin Bone Marrow

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FISH test detects deletion/monosomy of chromosome 5q.

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5q Deletion/Monosomy (MDS) Heparin Bone Marrow - Comprehensive Test Information Guide

Section 1: Why is it done?
- Test Purpose: This test detects the presence of a deletion or loss of chromosome 5q (the long arm of chromosome 5) in bone marrow cells, a characteristic cytogenetic abnormality associated with Myelodysplastic Syndrome (MDS), specifically the del(5q) subtype.
- Primary Indications: Diagnosis of MDS with isolated 5q deletion; Evaluation of unexplained anemia or cytopenias; Stratification of MDS risk and prognosis; Assessment of patients with macrocytic anemia and dysplastic changes; Monitoring for cytogenetic changes in known MDS patients.
- Clinical Circumstances: When bone marrow examination shows dysplastic changes; During initial workup of suspected MDS; In patients with persistent cytopenias (anemia, thrombocytopenia, or neutropenia); As part of comprehensive MDS classification and staging; When abnormal blood cell morphology is observed on complete blood count.
Section 2: Normal Range
- Normal Result: Negative or absent 5q deletion; All cells show normal chromosome 5 structure (46,XX or 46,XY with two intact chromosome 5q arms).
- Abnormal Result: Positive for 5q deletion; Cells display monosomy 5q or partial deletion of 5q; Reported as del(5q) or -5q; May be isolated or in combination with other cytogenetic abnormalities.
- Result Reporting Format: Reported as cytogenetic karyotype notation; Percentage of abnormal cells affected; Description of deletion size (partial or complete); Correlation with fluorescence in situ hybridization (FISH) if performed.
- Interpretation of Results: Negative = No evidence of 5q deletion; Positive = 5q deletion detected, suggestive of MDS-5q or related myeloid disorder; Clonal abnormality = Present in at least 2 independent cell divisions.
Section 3: Interpretation
- Positive for del(5q) - Isolated: Diagnostic of MDS with isolated 5q deletion (MDS-5q); Associated with favorable prognosis; Typically presents with macrocytic anemia and normal or elevated platelet count; Often shows lower risk of progression; Responsive to lenalidomide therapy.
- Positive for del(5q) - With Other Abnormalities: MDS with complex karyotype including 5q deletion; Indicates less favorable prognosis; Higher risk of progression to acute myeloid leukemia (AML); Requires different therapeutic approach; May show limited response to lenalidomide.
- Negative Result: No evidence of 5q deletion; If MDS is suspected, other cytogenetic abnormalities may be present; Different MDS classification may apply; Alternative diagnoses should be considered.
- Factors Affecting Interpretation: Percentage of abnormal cells; Quality of bone marrow sampling; Technical adequacy of cytogenetic analysis; Prior chemotherapy or radiation exposure; Associated morphologic findings; Peripheral blood parameters; Bone marrow blast percentage.
- Clinical Significance: Most common cytogenetic abnormality in MDS (~10% of cases); Defines a specific MDS entity with distinct clinical behavior; Predicts response to specific therapies; Essential for risk stratification using International Prognostic Scoring System (IPSS); Influences treatment decisions and patient counseling.
Section 4: Associated Organs
- Primary Organ System: Bone marrow and hematopoietic system; Cellular lineage affected includes myeloid, erythroid, and megakaryocytic series.
- Hematologic Manifestations: Macrocytic anemia (most common); Neutropenia or normal neutrophil counts; Thrombocytosis (elevated platelet count, often characteristic); Occasionally thrombocytopenia; Morphologic dysplasia in bone marrow.
- Associated Conditions: Myelodysplastic syndrome with isolated 5q deletion; Myelodysplastic syndrome with multilineage dysplasia; Myelodysplastic/myeloproliferative neoplasm; Therapy-related myelodysplasia; Chronic kidney disease-related anemia (in some cases).
- Secondary Complications: Progression to acute myeloid leukemia (5-10% in del(5q) alone); Secondary infections from neutropenia; Thrombotic events from elevated platelets; Iron overload from chronic transfusions; Organ involvement from leukemic transformation.
- Clinical Impact: Influences need for transfusion support; Affects employment and activity tolerance; Impacts long-term survival and quality of life; Determines requirement for monitoring and intervention; Influences spleen size and associated sequestration.
Section 5: Follow-up Tests
- Confirmatory Testing: Fluorescence in situ hybridization (FISH) using 5q-specific probes; Molecular cytogenetics to define deletion boundaries; Array comparative genomic hybridization (aCGH) for precise characterization.
- Baseline Hematologic Assessment: Complete blood count (CBC) with differential; Peripheral blood smear review; Bone marrow aspirate morphology and cellularity; Bone marrow biopsy for fibrosis assessment; Flow cytometry for dysplasia confirmation.
- Comprehensive Cytogenetic Panel: G-banding karyotype for additional abnormalities; Multiplex FISH panel for MDS-associated abnormalities; TP53 mutation testing if complex karyotype; NPM1, FLT3 testing if AML features present.
- Additional Diagnostic Tests: Comprehensive metabolic panel; Lactate dehydrogenase (LDH); Iron studies and ferritin; Vitamin B12 and folate levels; Reticulocyte count; Bleeding time if platelet dysfunction suspected.
- Monitoring Tests: Repeat cytogenetic analysis every 6-12 months; CBC with differential every 3-6 months; Bone marrow examination if clinical changes occur; Monitoring for blast progression; Imaging studies (chest X-ray, abdominal ultrasound) if clinically indicated.
- Treatment Response Monitoring: Cytogenetic response assessment after lenalidomide therapy; Morphologic response evaluation; Cytogenetic complete remission (CCR) vs. partial remission (PR); Hematologic improvement assessment; Detection of emerging new clones.
- Recommended Monitoring Frequency: Initial assessment: Comprehensive workup within 4 weeks; Untreated stable disease: CBC every 3 months, cytogenetics annually; On active therapy: CBC every 4-8 weeks, cytogenetics every 3-4 months; Post-treatment: CBC every 3-6 months, cytogenetics every 6-12 months.
Section 6: Fasting Required?
- Fasting Requirement: NO - Fasting is NOT required for this test.
- Specimen Collection: Bone marrow aspirate and biopsy obtained via aspirate/biopsy needle from posterior iliac crest; Specimen collected in heparin anticoagulant tube (as indicated by test name); Patient can eat and drink normally before procedure; Can take regular medications unless otherwise instructed.
- Pre-Procedure Preparation: Arrive 15-30 minutes early for registration; Wear loose, comfortable clothing to facilitate hip area access; Inform staff of any aspirin or anticoagulant use; Report active infections or bleeding disorders; Review procedure consent form; Notify provider of current medications.
- Medications to Avoid: Discuss with provider about aspirin, NSAIDs (within 7 days); Warfarin, heparin, and direct anticoagulants (may be continued or held based on indication); Antiplatelet agents (clopidogrel, ticlopidine); Recent intravenous contrast use should be noted.
- Post-Procedure Instructions: Keep biopsy site dry for 24 hours; Take over-the-counter pain relief if needed; Avoid strenuous activity for 24-48 hours; Expected mild discomfort at biopsy site resolves within 2-3 days; Contact provider if excessive bleeding, signs of infection, or severe pain.
- Special Considerations: Heparin anticoagulant preserves cell viability for cytogenetic analysis; EDTA tubes are NOT appropriate for this test; Handle specimen gently to prevent hemolysis; Transport to laboratory promptly (ideally within 24 hours); Notify laboratory of any clinical information affecting interpretation.

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