Genetic Tests

A Karyotyping Test is a diagnostic procedure that examines the chromosomes to detect abnormalities, such as genetic disorders or chromosomal anomalies.

• It involves analyzing the size, shape, and number of chromosomes in a sample of cells, usually obtained from blood or amniotic fluid.
• It helps in identifying conditions like Down syndrome, Turner syndrome, and other genetic disorders.

The BCR-ABL1 test is a diagnostic tool used to detect a specific genetic abnormality in leukemia, known as the Philadelphia chromosome. This chromosome results from a translocation between the BCR and ABL1 genes, leading to the production of a fusion gene. The test helps identify this abnormality, which is most commonly associated with chronic myeloid leukemia (CML) and some cases of acute lymphoblastic leukemia (ALL).

The PCA3 test, or Prostate Cancer Antigen 3, is a diagnostic tool used to assess the risk of prostate cancer. It detects the levels of a specific RNA molecule associated with prostate cancer in urine samples. It complements traditional prostate-specific antigen (PSA) testing.

Yes, the PML-RARA test is primarily used to diagnose APL, as this fusion gene is a hallmark of this specific leukemia subtype. It is not routinely performed for other types of leukemia or blood cancers.

An ALK mutation is a genetic alteration commonly found in NSCLC patients. It involves changes in the ALK gene, leading to the production of abnormal ALK proteins. These altered proteins play a crucial role in the development and progression of NSCLC.