General information
The SALSA MLPA Probemix P076 ACADVL-SLC22A5 is a research use only (RUO) assay for the detection of deletions or duplications in the ACADVL and SLC22A5 genes, which are associated with Very Long-Chain Acyl-coenzyme A Dehydrogenase (VLCAD) deficiency and primary carnitine deficiency.

VLCAD deficiency (OMIM 201475) is a fatty acid oxidation disorder that is detected in new-born screening. VLCAD is a metabolic disorder which prevents the converting of certain fats to energy. Defects of the ACADVL (acyl-Coenzyme A dehydrogenase, very long chain) gene are the cause of VLCAD deficiency; 80% of the cases of VLCAD deficiency are caused by mutations in the ACADVL gene and 20% of the cases are caused by complete or partial deletions of ACADVL.

Another fatty acid oxidation disorder is primary carnitine deficiency (OMIM 212140). Most cases of primary carnitine deficiency are caused by mutations in the SLC22A5 gene (solute carrier family 22 member 5), however, 20% of the cases do not show any mutation and might be caused by (partial) deletions of SLC22A5.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK6816/ and https://www.ncbi.nlm.nih.gov/books/NBK84551/.

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 P076-B3 ACADVL-SLC22A5 contains 42 MLPA probes with amplification products between 130 and 503 nucleotides (nt). This includes 20 probes for the ACADVL gene, one probe for each exon with the exception of exon 2 and two probes for exon 4, and ten probes for the SLC22A5 gene, one probe for each exon. In addition, 12 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.