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P159 GLA

SALSA® MLPA® Probemix P159 GLA detects copy number variations in the GLA gene.

Specifications

Contents: 25 MLPA probes, including 8 probes for GLA covering all 7 exons, 3 probes are for upstream regions and 3 probes for downstream regions.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: Fabry disease.

IVDD certified and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

Key related products

P164 IDS

Targets IDS, involved in Hunter syndrome – another X-linked lysosomal storage disease.

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Intended purpose

The SALSA MLPA Probemix P159 GLA is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the GLA gene in genomic DNA isolated from human peripheral whole blood specimens. P159 GLA is intended to confirm a potential cause for and clinical diagnosis of Fabry disease and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Fabry disease (OMIM: 301500) (Anderson-Fabry disease, Alpha-galactosidase A deficiency) is an X-linked disorder of glycosphingolipids that is caused by the deficiency of α-galactosidase A caused by defects in the galactosidase alpha (GLA) gene and usually has its onset in childhood or adolescence. Fabry disease is associated with the dysfunction of many cell types and includes a systemic vasculopathy (blood vessel disease). As a result, patients have a markedly increased risk of developing small-fiber peripheral neuropathy (disorders of the peripheral nervous system), stroke, myriad cardiac manifestations and chronic renal disease. Virtually all complications of Fabry disease are non-specific in nature and clinically indistinguishable from similar abnormalities that occur in the context of more common disorders in the general population.

Although this disease was originally thought to be very rare, studies have found a much higher incidence of mutations in the GLA gene, suggesting that this disorder is under-diagnosed (Schiffmann 2009).

More information is available at: https://www.ncbi.nlm.nih.gov/books/NBK1292/.

Regulatory status

SALSA MLPA Probemix P159 GLA is CE-marked under the IVDD 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 A5

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P159-025R
SALSA MLPA Probemix P159 GLA – 25 rxn
MLPA
€ 286.00
P159-050R
SALSA MLPA Probemix P159 GLA – 50 rxn
MLPA
€ 560.00
P159-100R
SALSA MLPA Probemix P159 GLA – 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 P159 GLA

  • Baptista MV et al. (2010). Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients. Stroke. 41:431-6.
  • De Schoenmakere G et al. (2008). Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients. Nephrol Dial Transplant. 23:4044-8.
  • Ferreira S et al. (2015). The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies. Mol Genet Metab. 114:248-58.
  • Ferri L et al. (2012). Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Clin Genet. 81:224-33.
  • Ferri L et al. (2016). Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease. Clin Chim Acta. 452:82-6.
  • Georgiou T et al. (2016). Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata. Case Rep Genet. 2016:5208312.
  • Gervas-Arruga J et al. (2015). Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the a-galactosidase A (GLA) gene. BMC Genet. 16:109.
  • Higuchi T et al. (2016). Identification of Cryptic Novel a-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions. JIMD Rep. 30:63-72.
  • Sheppard MN (2011). The heart in Fabry's disease. Cardiovasc Pathol. 20:8-14.
  • Torra R et al. (2012). Fabry disease: the many faces of a single disorder. Clin Kidney J. 5:379-82.
  • Yoshimitsu M et al. (2011). Identification of novel mutations in the a-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low a-galactosidase A activity. J Cardiol. 57:345-53.

References

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CE

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.