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P438 Celiac Disease

SALSA® MLPA® Probemix P438 Celiac Disease detects celiac disease-associated risk variants HLA-DQ2.5, HLADQ2.2 and HLA-DQ8.

Specifications

Contents: 20 MLPA probes, including 11 probes for the detection of multiple HLA-DQA1 and HLA-DQB1 alleles.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: celiac disease (CD).

IVDD certified for in vitro diagnostic (IVD) use.

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List Prices Documentation

The format of the product description has recently been updated. Some information can now be found in a different location (more information).

Intended purpose

The SALSA MLPA Probemix P438 Celiac Disease is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of celiac disease (CD)-associated risk variants HLA-DQ2.5, HLA-DQ2.2 and HLA-DQ8 in genomic DNA isolated from human peripheral whole blood specimens. P438 Celiac Disease is intended to strengthen clinical diagnosis of CD and for molecular genetic testing of at-risk family members. P438 Celiac Disease can be used to exclude the possibility of CD in first-degree relatives and other at-risk groups. P438 is not intended to determine the copy number of the detected variant alleles.

For the full intended purpose, see the product description.

Clinical background

Celiac disease is a chronic, small intestinal enteropathy triggered by gluten proteins from wheat, barley and rye. It is characterized by an autoimmune response in genetically susceptible individuals, resulting in small intestine mucosal injury. CD affects roughly 1% of the population. Higher risk groups include individuals having an affected first-degree relative, and those with Down syndrome, Turner syndrome, selective immunoglobulin A (IgA) deficiency, type I diabetes mellitus or other autoimmune conditions.

CD is a multigenic disorder, in which the most dominant genetic risk factors are specific HLA-DQ variants encoded by the HLA-class II region on chromosome 6p. Presence of one of these risk variants is necessary but not sufficient to cause the disease, as other genes (many of which are involved in the immune system or in intestinal permeability) and environmental factors play a role as well (Barakauskas et al. 2014). Although the CD risk variants have a combined prevalence of up to 40% in the general population (20-30% for DQ2.5 and DQ2.2 combined; 10% for DQ8), CD is extremely rare in individuals lacking all of them.

The HLA-DQ2.5 variant is present in 90-95% of patients with CD and is encoded by the HLA-DQA1*05 / HLA-DQB1*02 alleles. The remaining patients are positive for either the HLA-DQ8 variant (encoded by HLA-DQA1*03 / HLA-DQB1*0302) or the HLA-DQ2.2 variant (encoded by HLA-DQA1*02 / HLA-DQB1*02) (Tack et al. 2010; Mubarak et al. 2013). All aforementioned alleles can be detected by this MLPA probemix (see Table 1 in the product description). In addition, the HLA-DQ7.5 variant, encoded by HLA-DQA1*05 / HLA-DQB1*0301, was suggested to be involved in CD (Martínez-Ojinaga et al. 2018), but this has not yet been established. The HLA-DQ7.5 variant can be tentatively identified with this MLPA probemix (see Interpretation of results section in the product description for more information).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1727/.

Regulatory status

SALSA MLPA Probemix P438 Celiac Disease is CE-marked under the IVDD for in vitro diagnostic (IVD) use in Europe.

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

SALSA Sample DNA for this product

SALSA Binning DNA SD089 is an artificial DNA sample with a signal for all probes in the P438 Celiac Disease probemix. Inclusion of a reaction with SD089 in initial experiments and in experiments following a change in electrophoresis conditions is recommended to aid in the creation of a bin set that links peaks to the probes that produce them. Binning DNA cannot be used as a reference sample in the MLPA data analysis, and cannot be used to quantify the signals of mutation-specific probes.

A vial of SALSA Binning DNA SD089 is included with every order of the P438 Celiac Disease probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version D3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P438-025R
SALSA MLPA Probemix P438 Celiac Disease – 25 rxn
MLPA
€ 286.00
P438-050R
SALSA MLPA Probemix P438 Celiac Disease – 50 rxn
MLPA
€ 560.00
P438-100R
SALSA MLPA Probemix P438 Celiac Disease – 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

Sample DNAs (included)

A vial is included with every order of this probemix, but additional vials can also be purchased separately.

Item no.
Description
Technology
Price
SD089
SALSA Binning DNA SD089 – 6 rxn
MLPA
€ 24.15

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 P438 Celiac Disease

  • Rouvroye MD et al. (2019). HLA-DQ Typing Kits in Diagnosis and Screening for Celiac Disease. Genet Test Mol Biomarkers. 23:418-22.
  • Van Beek EM et al. (2013). A multiplex assay to rapidly exclude HLA-DQ2.5 and HLA-DQ8 expression in patients at risk for celiac disease. Clin Chem Lab Med. 51:1191-8.
  • Vijzelaar R et al. (2016). Rapid Detection of the Three Celiac Disease Risk Genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 by Multiplex Ligation-Dependent Probe Amplification. Genet Test Mol Biomarkers. 20:158-61.

References

  • Barakauskas VE et al. (2014). Digesting all the options: laboratory testing for celiac disease. Crit Rev Clin Lab Sci. 51:358-78.
  • Martínez-Ojinaga E et al. (2018). HLA-DQ distribution and risk assessment of celiac disease in a Spanish center. Rev Esp Enferm Dig. 110:421-6.
  • Mubarak A et al. (2013). Human leukocyte antigen DQ2.2 and celiac disease. J Pediatr Gastroenterol Nutr. 56:428-30.
  • Tack GJ et al. (2010). The spectrum of celiac disease: epidemiology, clinical aspects and treatment. Nat Rev Gastroenterol Hepatol. 7:204-13.
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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.