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SALSA MLPA Probemix P055 PAH

SALSA® MLPA® Probemix P055 PAH detects copy number variations in the PAH gene.

Specifications

Contents: 38 MLPA probes, including 22 probes for PAH , covering all 13 of its exons and the upstream region.

Tissue: genomic DNA obtained from peripheral whole blood specimen.

Application: phenylketonuria (PKU).

CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

Key related products

SALSA MLPA Probemix P076 ACADVL-SLC22A5

Contains probes for the ACADVL gene, involved in Very Long-Chain Acylcoenzyme A Dehydrogenase (VLCAD) deficiency.

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This product has recently been CE-marked for in vitro diagnostic (IVD) use under the In Vitro Diagnostic Regulation (IVDR; EU 2017/746), which replaces the former CE-marking under the IVD Directive (IVDD; Directive 98/79/EC). This update was accompanied by a change in format of the product description. Some information can now be found in a different location (more information).

Intended purpose

The SALSA MLPA Probemix P055 PAH is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative manual assay for the postnatal detection of deletions and duplications in the PAH gene in genomic DNA obtained from peripheral whole blood specimens.

P055 PAH is intended to confirm a potential cause for the recessive disorder phenylketonuria (PKU) in patients referred for molecular genetic testing based on clinical presentation.

For the full intended purpose, see the product description.

Clinical background

Phenylketonuria (PKU; also called PAH deficiency) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase. PKU is characterised by hyperphenylalaninemia caused by an intolerance to the dietary intake of the essential amino acid phenylalanine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. More information on PKU is available on https://www.ncbi.nlm.nih.gov/books/NBK1504/.

SALSA MLPA Probemix P055 PAH can detect most deletions and duplications in the PAH gene and therefore complements sequence analysis of the PAH gene. The expected number of PAH chromosomal rearrangements that can be detected with this MLPA probemix is between 1 and 5% of all PKU cases. However, this percentage varies strongly between populations.

Regulatory status

SALSA MLPA Probemix P055 PAH is IVDR certified for in vitro diagnostic (IVD) use in Europe. This assay has also been registered for IVD use in Israel.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version D1

Other versions

Contact us for earlier versions.

Translations and Summary of Safety and Performance

Translations of the product description in selected European languages are available upon request. Please contact us or one of our local sales partners. Translations of the MLPA General Protocol in selected languages are available here.

The Summary of Safety and Performance (SSP) is also available upon request.

List prices

Product

Item no.
Description
Technology
Price
P055-025R
SALSA MLPA Probemix P055 PAH – 25 rxn
MLPA
€ 286.00
P055-050R
SALSA MLPA Probemix P055 PAH – 50 rxn
MLPA
€ 560.00
P055-100R
SALSA MLPA Probemix P055 PAH – 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

Publications

Selected publications using P055 PAH

  • Gao J et al. (2022). Identification of phenylketonuria patient genotypes using single-gene full-length sequencing. Hum Genomics. 16:23.
  • Tao Y et al. (2021). Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province. Brain Dev. 43:220-9.
  • Zeng B et al. (2023). Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province. Front Genet. 14:1049816.
  • Zhang C et al. (2023). The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China. Hum Genomics. 17:36.

References

  • Scriver CR et al. (2001). Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver CR, Beaudet AL, Sly SW, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8 ed. New York, NY: McGraw-Hill. 1667-1724.
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CE2797

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.

IL

IVD-registered in Israel.