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P107 Neurometabolic

SALSA MLPA Probemix P107 Neurometabolic disorders detects copy number variations in the D2HGDH, L2HGDH, MLYCD and MLC1 genes.

Specifications

Contents: 44 MLPA probes, including 5 probes for D2HGDH, 10 probes for L2HGDH, 5 probes for MLYCD and 12 probes for MLC1.

Tissue: human genomic DNA.

Application: research on neurometabolic disorders.

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

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List Prices Documentation

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General information

The SALSA MLPA Probemix P107 Neurometabolic disorders is a research use only (RUO) assay for the detection of deletions or duplications in the D2HGDH, L2HGDH, MLYCD and MLC1 genes, which are associated with neurometabolic disorders.

The D2HGDH gene encodes D-2-hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in the D2HGDH gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features.

The L2HGDH gene encodes L-2-hydroxyglutarate dehydrogenase, an FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe intellectual disability.

Malonyl-CoA decarboxylase deficiency is a rare autosomal recessive (liver, brain, heart, and skeletal muscle) metabolic disorder characterized by malonic aciduria, developmental delay, seizures, hypoglycemia, acidosis, short stature and cardiomyopathy. The disorder is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD).

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an inherited neurological disorder with macrocephaly before the age of one and slowly progressive deterioration of motor functions. Mutations in the MLC1 gene, encoding a putative membrane protein, have been identified as a cause for MLC.

The D2HGDH gene (10 exons), spans ~34 kb of genomic DNA and is located on 2q37.3, ~242 Mb from the p-telomere (close to the q-telomere). The L2HGDH gene (10 exons), spans ~70 kb of genomic DNA and is located on 14q22.1, ~50 Mb from the p-telomere. The MLYCD gene (5 exons), spans ~28 kb of genomic DNA and is located on 16q23.3, ~82 Mb from the p-telomere. The MLC1 gene (12 exons), spans ~26 kb of genomic DNA and is located on 22q13.33, ~49 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1535/.

Regulatory status

SALSA MLPA Probemix P107 Neurometabolic is for research use only (RUO) in all territories.

Product documentation

Version B3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P107-025R
SALSA MLPA Probemix P107 Neurometabolic – 25 rxn
MLPA
€ 286.00
P107-050R
SALSA MLPA Probemix P107 Neurometabolic – 50 rxn
MLPA
€ 560.00
P107-100R
SALSA MLPA Probemix P107 Neurometabolic – 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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