Test Name:

PML/RARA – Acute Promyelocytic Leukemia (AML-M3 / APML)
(t(15;17)(q24;q21) Translocation Detection)

Clinical Significance:

The PML/RARA fusion gene arises from the t(15;17) translocation, which is diagnostic of Acute Promyelocytic Leukemia (APL or AML-M3). This genetic alteration leads to a block in myeloid differentiation and is critically important for targeted therapy with ATRA (All-Trans Retinoic Acid) and arsenic trioxide.

• Early detection is life-saving due to the high risk of coagulopathy in APL.

• Confirms eligibility for APL-specific treatment protocols.

Sample Requirements:

• Sample Type: Bone Marrow / Peripheral Blood

• Collection Tube: EDTA or Sodium Heparin Vacutainer

• Volume: 2–3 mL

• Transport Conditions: Ambient temperature; avoid freezing

Methodology:

• RT-PCR (Reverse Transcriptase PCR) – Detects PML/RARA fusion transcripts

• FISH – Optional for confirmation or when RNA quality is poor

Turnaround Time:

5–7 working days (Rapid testing available in urgent cases)

Indications for Testing:

• Suspected Acute Promyelocytic Leukemia (APL)

• Morphology suggestive of AML-M3 subtype

• Confirmation of diagnosis for ATRA-based therapy initiation

• Monitoring of minimal residual disease (MRD) post-treatment

Interpretation:

• Positive Result: Confirms PML/RARA fusion — diagnostic of APL

• Negative Result: Suggests alternate AML subtype; further genetic testing recommended

• Quantitative PCR: May be used during follow-up to monitor treatment response