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P156 GALT

SALSA MLPA Probemix P156 GALT detects copy number variations in the GALT gene.

Specifications

Contents: 22 MLPA probes, including 11 probes for GALT (covering all exons).

Tissue: human genomic DNA.

Application: research on classic galactosemia and clinical variant galactosemia.

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P156 GALT is a research use only (RUO) assay for the detection of deletions or duplications in the GALT gene, which is associated with Classic Galactosemia and Clinical Variant Galactosemia.

Classic galactosemia and clinical variant galactosemia are disorders of the galactose metabolism inherited in an autosomal recessive manner. These disorders are caused by defects of the GALT gene, encoding galactose-1-phosphate uridylyltransferase. Failure to thrive is the most common initial clinical symptom of galactosemia. The cardinal features of these disorders are hepatomegaly, cataracts, and intellectual disability. After exclusion of galactose from the diet, these signs and symptoms normalise. Classic galactosemia is estimated to occur 1 in 30,000 to 60,000 newborns, while the prevalence for the clinical variant galactosemia is unknown. Some cases of clinical variant galactosemia might be missed during the newborn screening, since breath testing is normal and hypergalactosemia is not as marked as in the classic galactosemia.

The GALT gene has 11 exons, spans ~4.0 kb of genomic DNA, and is located on chromosome 9p13.3, about 35 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1518/.

Regulatory status

SALSA MLPA Probemix P156 GALT 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
P156-025R
SALSA MLPA Probemix P156 GALT – 25 rxn
MLPA
€ 286.00
P156-050R
SALSA MLPA Probemix P156 GALT – 50 rxn
MLPA
€ 560.00
P156-100R
SALSA MLPA Probemix P156 GALT – 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.

The commercially available positive samples below can be used with the current (B3) version of this product.

  • Coriell NA01741: Homozygous deletion affecting the probes for GALT.
  • Coriell NA05067: Heterozygous duplication affecting the probes for DNAI1, HIC1, GALT and IL11RA.

Resources

General MLPA resources

MLPA education

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