General information
SALSA^® digitalMLPA™ Probemix D007 Acute Lymphoblastic Leukemia is a research use only (RUO) assay for the detection of deletions, gains or amplifications in 52 specific target genes and three chromosomal regions (5q, iAMP21 and PAR1), which are associated with acute lymphoblastic leukemia (ALL) as mentioned in Table 2 in the product description.

This assay is for use with genomic DNA isolated from peripheral whole blood or bone marrow specimens and is not intended to be used with genomic DNA extracted from formalin-fixed paraffin-embedded or fresh-frozen tumour materials. CNAs detected with this probemix should be confirmed with a different technique or with SALSA^® MLPA^® probemixes when possible. In particular, CNAs detected by only a single probe always require confirmation by another method. The majority of defects in the genes included in this probemix are deletions, gains or amplifications, but point mutations can occur which will not be detected by digitalMLPA. It is therefore recommended to use this assay in combination with sequence analysis for the gene(s) of interest.

ALL is the most common childhood cancer and includes multiple genetically heterogeneous subtypes of malignant clonal expansions of immature T- or B-cells. Although current treatment regimens have resulted in 5-year event-free survival rates of >90% in children, disease relapse is associated with a poor outcome (Roberts and Mullighan 2015). Genetic alterations in the different subtypes of ALL are well characterised and include gross chromosomal aberrations such as hyper-/hypodiploidy, but also fusion genes, gene deletions, gains and amplifications. SALSA^® digitalMLPA™ Probemix D007 Acute Lymphoblastic Leukemia is designed to detect these key genetic copy number alterations in childhood ALL.

This probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
A total number of ~760 probes is included in D007-A1 Acute Lymphoblastic Leukemia, consisting of:
- 347 target probes detecting copy number alterations involved in ALL (Table 2 in the product description)
- 249 karyotyping probes, covering most chromosome arms at the centromeres, middle of the chromosome arms and telomere regions. No probes are present for the short p-arm of the five acrocentric chromosomes (13, 14, 15, 21 and 22). See Table 3 in the product description for all chromosomal regions and genes included.
- More than 160 control probes and fragments: these include probes to aid in normalisation in case of copy number changes in tumour samples, probes for sample identification and probes for detection of errors or deviations when performing digitalMLPA assays, impurities in and fragmentation of the DNA samples, ligase and polymerase activity and extent of hybridisation.

More information on the location and warnings of the probes present in this probemix can be found in the Probe Information File (PIF) available at www.mrcholland.com.

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