Inversion (16), Quantitative Test Cost & Procedure

Introduction

The CBFB-MYH11 gene fusion may be detected using this very sensitive quantitative assay for inv(16)(p13.1q22) or t(16;16)(p13.1;q22). When acute myeloid leukaemia patients are diagnosed, this identification is helpful for tracking minimal residual illness throughout their clinical and treatment courses.

Clinical Relevance

Real-Time PCR, Quantitative, CBFB/MYH11 inv(16) -

The CBFB/MYH11 fusion transcript can be amplified using this Real-Time Quantification (Reverse Transcription Polymerase Chain Reaction) method to identify inv (16) or t chromosomal aberrations (16;16). It can be used to determine the risk of a disease relapse in individuals with inv (16) or t (16;16) acute myeloid leukaemia and to detect minimal residual disease (MRD) (AML).

Useful for

Monitoring minimal recurrent disease throughout the clinical and therapeutic course of AML patients. Detection of CBFB-MYH11 gene fusion in patients with acute myeloid leukaemia (AML) who have recently received a diagnosis.

Indication

for evaluating the existence or absence of the CBFB-MYH11 fusion transcript linked to the inv(16(p13.1q22) chromosomal aberration present in 5–8% of acute myeloid leukaemia (AML) cases as determined by the 2008 WHO classification and AML-M4Eo cases as per the earlier FAB classification. This quantitative test can be used to confirm the diagnosis of AML with recurrent genetic abnormalities according to the WHO 2008 classification and to track the progression of minimal residual illness after treatment.

Methodology

RNA is analyzed for CBFB-MYH11 fusion by reverse transcription followed by quantitative real-time PCR using the TaqMan method.

Test variables

The Type A CBFB-MYH11 fusion transcripts will be found using this assay. Data are expressed as a proportion of normalised ABL transcripts to CBFB-MYH11 transcripts. About 1 in 100,000 people can be detected with reasonable accuracy.

5 to 10 working days are the turnaround time.

Typical Needs

• Peripheral blood in the amount of 10 ml was sent through overnight express mail on wet ice in a purple top tube (EDTA Vacutainer).
• Send 2 to 5 ml of bone marrow aspirate in a purple top EDTA Vacutainer tube via overnight express mail with wet ice.

Takeaway

With regard to these particular chromosomal abnormalities, inv(16) is typically associated with the subclass of AML M4 and has a distinctive aberrant eosinophil component. AML M4EO is the term used to describe these AML M4 instances. The bone marrow also exhibits a variable quantity of eosinophils at all phases of maturation without a severe maturation arrest, in addition to the morphological characteristics of. Immature eosinophilic granules are the source of the most obvious abnormalities. They are primarily visible during the promyelocyte and myelocyte stages. At later phases of maturation, the anomalies are typically not noticeable. These eosinophilic granules are purple-violet in colour, frequently bigger than those typically observed in juvenile eosinophils, and in some cells, so thick that they obscure the architecture of the cell. -