CE MarkRT-102

24 Tests

INV(16)(p13q22) - CBFB-MYH11

The Inv(16)(p13q22) - CBFB/MYH11  is an in vitro diagnostic test for the identification and quantification of the CBFB/MYH11 gene fusion results from the Inv(16)(p13q22), by multiplex one-step Real-Time PCR.

The Inv(16)(p13q22) - CBFB/MYH11 allows also the detection and quantification of ABL as a endogenous control gene. Standard curves of known amounts of both the endogenous control and the gene fusion cDNA allow the calculation of the ratio of specific fusion transcript signal to endogenous control gene signal in each sample, allowing the identification of the minimal residual disease (MRD).



The device is intended for detecting the presence of gene fusion results from the t Inv(16)(p13q22), a recurrent genetic abnormality especially in adult Acute Myeloid Leukemia (10% of all de novo AML). Abnormalities of chromosome 16 are found in about 5–8% of acute myeloid leukemia (AML). The AML with inv(16)(p13.1q22) or t (16;16)(p13.1;q22) is associated with a high rate of complete remission and favorable overall survival when treated with high-dose Cytarabine. This subtype of AML is typically associated with distinctive morphologic findings, including a prominent monocytic component, eosinophilia, and abnormalities involving immature eosinophilic granules in late promyelocyte and myelocyte stages of eosinophil maturation.

The inv(16) results in a leukemogenic CBFB/MYH11 gene fusion. In these rearrangements the core binding factor β (CBFB) gene on 16q22 is fused to the smooth muscle myosin heavy chain gene (MYH11) on 16p13.

The detection of the CBFB/MYH11 fusion gene by reverse transcriptase–polymerase chain reaction (RT-PCR) allows patients to be assigned to the appropriate risk group for management.



Mix 1:

  • Inv(16) type A
  • Inv(16) type D
  • Inv(16) type E
  • Internal Control (IC): ABL gene

Mix 2 (rare Variants):

  • Inv(16) type B, C, F, G, H I and J 
  • Internal Control (IC): ABL gene

Standard for quantification:

Synthetic Nucleic Acids corresponding to gene fusion region derived from INV(16) and ABL as control gene  (100.000 cps/µL - 100 cps/µL)

Diagnostic samples:

  • Mononuclear cells isolated from whole blood collected in EDTA or Bone Marrow collected in EDTA

Real-Time PCR instruments:

  • Applied Biosystems 7500 Fast (ThermoFisher SCIENTIFIC)
  • Rotor-Gene Q MDx (RG-Q MDx - QIAGEN)
  • CFX96 Real-Time PCR Detection System (Bio-Rad)

RNA Extraction:

Manual Extraction with:

  • RNeasy Mini Kit  (QIAGEN)

Automatic Extraction with: