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SALSA MLPA Probemix P278 PCCA-PCCB

Propionic acidemia

Region: PCCA 13q32.3; PCCB 3q22.3

General information
The SALSA MLPA Probemix P278 PCCA-PCCB is a research use only (RUO) assay for the detection of deletions or duplications in the PCCA and PCCB genes, which are associated with propionic acidemia.

Propionic acidemia (PA) is an autosomal recessive disorder. PA is a disease with a wide clinical spectrum, and can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy. Other rarely reported complications include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure. The worldwide incidence of PA is estimated to be 1 in 50.000 to 100.000 live births and higher in some specific populations.

PA is caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC) that catalyzes the conversion of propionyl-CoA to methylmalonyl-CoA. The enzyme PCC is composed of α- and β-subunits which are encoded by the PCCA and PCCB genes localized on chromosomes 13q32.3 and 3q22.3, respectively. Missense mutations are predominant in PCC genes. Exon deletions account for ~20% of PCCA disease-causing alleles, while only three large deletions in PCCB have been described causing PA (Chiu et al. 2014, Desviat et al. 2006, Kraus et al. 2012).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK92946.

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 P278-D1 PCCA-PCCB contains 51 MLPA probes with amplification products between 124 and 504 nucleotides (nt). This includes 27 probes for the PCCA gene, one probe for each exon and two probes for exons 1, 4, and 7, and 15 probes for the PCCB gene, one probe for each exon. 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.

Order Items

Probemix

Item no.
Description
Technology
Price
P278-025R
SALSA MLPA Probemix P278 PCCA-PCCB – 25 rxn
€ 281.00
P278-050R
SALSA MLPA Probemix P278 PCCA-PCCB – 50 rxn
€ 550.00
P278-100R
SALSA MLPA Probemix P278 PCCA-PCCB – 100 rxn
€ 1075.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM
€ 6037.00

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