General information
The SALSA MLPA
Probemix P383 T-ALL is a
research use only (RUO) assay for the detection of deletions or duplications in 13 different chromosomal regions, which are suggested to be of diagnostic and/or prognostic importance in T-ALL.
T-lineage acute lymphoblastic leukemia (T-ALL) is a clonal malignant disorder of immature T-cells, which accounts for about 15% of paediatric and 25% of adult ALL cases (Iacobucci and Mullighan 2017). Although prognosis has improved due to effective treatment protocols, around 25% of paediatric and 50-70% of adult patients still experience relapse. T-ALL is genetically heterogeneous, and comprises multiple distinct subtypes defined by chromosomal rearrangements that usually involve one of the T-cell receptor (TCR) loci, but non-TCR-driven translocations are also detected. In addition, genome-wide characterisation has identified several novel amplifications, deletions and point mutations in T-ALL samples that are of interest to better define T-ALL subgroups (Girardi et al. 2017).
This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
Probemix content
The SALSA MLPA Probemix P383-A2 T-ALL contains 56 MLPA probes with amplification products between 130 and 504 nucleotides (nt). This includes probe(s) for 13 chromosomal regions, including
STIL-TAL1 (1p33),
LEF1 (4q25),
CASP8AP2 (6q15),
MYB (6q23),
EZH2 (7q36)
MLLT3+MTAP+CDKN2A/B (9p21),
NUP214-ABL1 (9q34),
PTEN (10q23),
LMO1 (11p15),
LMO2 (11p13),
NF1+SUZ12 (17q11),
PTPN2 (18p11) and
PHF6 (Xq26). In this probemix, 40 out of the 56 MLPA probes are used as reference probes, as they are spread over a number of different chromosomal regions and it is expected that the majority of these probes will have a normal copy number in most samples. Complete probe sequences are available in Table 2 of the Product Description and online (
www.mrcholland.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mrcholland.com.