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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.

IVDR 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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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 P159 GLA is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative manual 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, hereafter denoted as FD), an X-linked multisystemic lysosomal storage disorder caused by mutations in the GLA gene. The GLA gene encodes for the lysosomal enzyme α-galactosidase A (AGAL), which is crucial for the lysosomal degradation of glycosphingolipid globotriaosylceramide (Gb3) (Izhar et al. 2023, Li et al. 2022, Weissman et al. 2024). AGAL deficiency as a result of GLA mutations in patients with FD leads to aberrant glycosphingolipid metabolism and subsequently the accumulation of Gb3 within lysosomes (Li et al. 2022).

Genetic alterations are inherited from an affected parent with a germline mutation in most cases. De novo mutations have been documented, but are rare. Pathogenic mutations found in patients with FD are mostly point mutations, with large deletions and duplications amounting to 1-5% of defects in the GLA gene (Amodio et al. 2022, Bernstein et al. 1989, Higuchi et al. 2016, Viggiano and Politano 2021).

Clinical features of FD (predominantly determined for males) are acroparesthesia, cardiovascular disease, peripheral neuropathy, gastrointestinal disorders, and chronic kidney disease (Izhar et al. 2023, Li et al. 2022, Weissman et al. 2024). 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. The clinical phenotype in heterozygous females ranges from asymptomatic to as severe as affected males (Izhar et al. 2023). This is thought to be the result of the random nature of X-inactivation patterns (also known as lyonization) (Izhar et al. 2023). Additionally, depending on how the mutation affects AGAL enzymatic activity, mutations can either lead to the classical form of FD when <1% of the enzymatic activity is retained, or the non-classical form of FD (also known as the late-onset phenotype) when 1-30% of the enzymatic activity is retained (Ferreira Tátá et al. 2021, Viggiano and Politano 2021).

Regulatory status

SALSA MLPA Probemix P159 GLA is CE-marked under the IVDR 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.

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
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.

The commercially available positive samples below have been tested with the current (A5) version of this product and have been shown to produce useful results.

  • Coriell NA03923: Heterozygous deletion affecting all probes for GLA, all but one flanking probe, and one reference probe.
  • Coriell NA09824: Heterozygous deletion affecting all probes for GLA, all flanking probes, and three reference probes.

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

  • Amodio F et al. (2022). An Overview of Molecular Mechanisms in Fabry Disease. Biomolecules. 12:1460.
  • Bernstein HS et al. (1989). Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. J Clin Invest. 83:1309-9.
  • 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.
  • Izhar R et al. (2023). Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations. Genes (Basel). 15:37.
  • Li X et al. (2022). Fabry disease: Mechanism and therapeutics strategies. Front Pharmacol. 13:1025740.
  • Schiffmann R (2009). Fabry disease. Pharmacol Ther. 122:65-77.
  • Tátá C et al. (2021). Fabry Disease: A Atypical Presentation. Cureus. 13:e18708.
  • Viggiano E et al. (2021). X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis. Int J Mol Sci. 22:7663.
  • Weissman D et al. (2024). Fabry Disease: Cardiac Implications and Molecular Mechanisms. Curr Heart Fail Rep. 21:81-100.
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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.

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.