General information
The SALSA MLPA Probemix P470 NCL is a research use only (RUO) assay for the detection of deletions or duplications in the PPT1, TPP1, CLN3, CLN6, and CLN8 genes, which are associated with Neuronal Ceroid Lipofuscinoses (NCLs).

NCLs are a heterogeneous group of inherited neurodegenerative disorders with autosomal recessive inheritance. They are characterised by the accumulation of autofluorescent hydrophobic material in the cytoplasm of neurons and other cell types. NCLs are divided in several subtypes, based on age of onset, clinical course and structure of the storage material. Some of the clinical features are visual impairment, progressive myoclonic epilepsy and cognitive decline leading to progressive neurodegeneration and premature death.

Three typical forms, the infantile (INCL), late-infantile (LINCL), and juvenile (JNCL), are among the most common childhood-onset neurodegenerative disorders. They result from mutations in the genes PPT1 (CLN1 locus), TPP1 (CLN2 locus), and CLN3, respectively. The most common known deletion is a 1.02-kb deletion in CLN3, causing JNCL (also known as Batten disease). The International Batten Disease Consortium (1995) demonstrated that 73% of Batten disease cases are caused by this 1.02-kb deletion covering exons 7 and 8 of CLN3. In Finland, 90% of patients with Batten disease carry the 1.02-kb deletion (Järvelä et al., 1996). Other CLN genes, like CLN6 and CLN8, have also been identified to cause a (more rare) form of NCL.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1428/.

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 P470-A1 NCL contains 50 MLPA probes with amplification products between 121 and 502 nucleotides (nt). This includes nine probes for the PPT1 gene, 12 probes for the TPP1 gene, 16 probes for the CLN3 gene, and two probes for the CLN6 and CLN8 genes. In addition, nine reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available 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.