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Tests for Diagnosis

Accurate diagnosis is the first step toward effective treatment of blood cancers and related disorders. Doctors use a range of tests to identify the exact type of disease, its stage, and genetic features that may guide therapy. These investigations also help rule out other conditions and plan the most appropriate treatment approach.

Leukaemia

  • Complete blood count (CBC) to detect abnormal white blood cell levels.
  • Bone marrow aspiration and biopsy for confirming cancerous cells.
  • Genetic and molecular testing (e.g., Philadelphia chromosome in CML).
  • Flow cytometry to identify cell type and disease subtype.

Lymphoma

  • Lymph node biopsy (excisional or core) for definitive diagnosis.
  • PET-CT or CT scans to assess disease spread and staging.
  • Blood tests for organ function and overall health assessment.
  • Bone marrow biopsy if marrow involvement is suspected.

Myeloma

  • Blood tests for abnormal proteins (M protein, light chains).
  • Urine tests to detect Bence Jones proteins.
  • Bone marrow biopsy to check plasma cell levels.
  • Imaging (X-rays, MRI, PET-CT) for bone lesions.

Myelodysplastic Syndromes (MDS)

  • Blood counts showing anemia, low platelets, or abnormal white cells.
  • Bone marrow biopsy to assess dysplasia and cellularity.
  • Cytogenetic testing for chromosomal abnormalities.
  • Molecular tests to guide prognosis and therapy.

Myeloproliferative Neoplasms (MPN)

  • Blood tests showing elevated red cells, white cells, or platelets.
  • Bone marrow biopsy for marrow morphology.
  • Genetic testing (JAK2, CALR, MPL mutations).
  • Ultrasound/CT scan to check for enlarged spleen.
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