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P010 POLG

SALSA MLPA Probemix P010 POLG detects copy number variations in the POLG, POLG2, TWNK and SLC25A4 genes.

Specifications

Contents: 44 MLPA probes, including 23 probes for POLG, 3 probes for POLG2, 5 probes for TWNK, and 4 probes for SLC25A4.

Tissue: human genomic DNA.

Application: research on autosomal disorders of mitochondrial DNA (mtDNA) maintenance.

For research use only (RUO). Not for use in diagnostics.

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List Prices Documentation

Key related products

P089 TK2

Contains probes for the genes TK2, DGUOK, MPV17, RRM2B, SUCLA2 and SUCLG1, which are associated with mitochondrial DNA depletion syndromes.

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General information

The SALSA MLPA Probemix P010 POLG is a research use only (RUO) assay for the detection of deletions or duplications in the genes POLG, POLG2, TWNK and SLC25A4, which are associated with autosomal disorders of mitochondrial DNA (mtDNA) maintenance.

The genes POLG (15q26.1), POLG2 (17q23.3), TWNK (10q24.31) and SLC25A4 (4q35.1) are involved in the replication of mtDNA, a process crucial to ensure cellular energy production. Pathogenic variants of those genes therefore lead to mtDNA depletion and/or accumulation of mtDNA deletions as well as energy deficiency within affected cells. Insufficient cellular energy production subsequently results in organ dysfunction. The most frequently affected organs and tissues are the brain, liver, skeletal muscle, peripheral nerves and gastrointestinal tract. MtDNA maintenance disorders are therefore classified into groups depending on the predominantly affected organ and range from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK487393.

Regulatory status

SALSA MLPA Probemix P010 POLG is for research use only (RUO) in all territories.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P010-025R
SALSA MLPA Probemix P010 POLG – 25 rxn
MLPA
€ 286.00
P010-050R
SALSA MLPA Probemix P010 POLG – 50 rxn
MLPA
€ 560.00
P010-100R
SALSA MLPA Probemix P010 POLG – 100 rxn
MLPA
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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