Deletion 13q, Multiple Myeloma / CLL, Leukemic Blood
What it is
The Deletion 13q test is a cytogenetic and molecular test performed on leukemic blood or bone marrow samples to detect the loss of genetic material from the long arm of chromosome 13 (13q). This abnormality is one of the most frequent genetic findings in chronic lymphocytic leukemia (CLL) and multiple myeloma, and it provides important information about disease behavior and prognosis.
Uses
This test is used to evaluate genetic risk in patients with CLL or multiple myeloma. Identifying the 13q deletion helps doctors classify disease severity, predict progression, and tailor treatment plans. In CLL, it may be associated with a relatively favorable prognosis if it occurs as the sole abnormality. In multiple myeloma, however, the presence of 13q deletion often indicates more aggressive disease and a poorer outcome.
Symptoms That May Lead to the Test
Doctors may order this test if you have already been diagnosed with CLL or multiple myeloma, especially when there are symptoms such as persistent lymph node enlargement, anemia, fatigue, frequent infections, bone pain, or recurrent fractures. It is part of a larger panel of genetic tests used for staging and prognosis in hematological cancers.
Abnormal Results
Positive for 13q Deletion: In CLL, when isolated, it often indicates a better prognosis compared to other high-risk mutations (like TP53). In multiple myeloma, however, it is generally associated with aggressive disease and shorter survival, often requiring closer monitoring and intensive therapy.
Negative for 13q Deletion: Suggests absence of this specific abnormality, though other cytogenetic or molecular mutations may still be present and influence prognosis.
Risks
The test requires a blood or bone marrow sample. Risks are minimal and limited to slight pain, bruising, or dizziness from blood collection. If a bone marrow sample is needed, risks may include localized pain, bleeding, or rare infection at the biopsy site.



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