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SALSA MLPA Probemix P236 CFH Region

SALSA® MLPA® P236 CFH Region detects copy number variations in the CFH, CFHR1, CFHR2, CFHR3, CFHR4 and CFHR5 genes.

Specifications

Contents: 53 MLPA probes, including 16 probes for CFH, 6 probes for CFHR1, 4 probes for CFHR2, 8 probes for CFHR3, 4 probes for CFHR4, and 5 probes for CFHR5.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: atypical hemolytic uremic syndrome (aHUS), systemic lupus erythematosus (SLE) and C3 glomerulopathy.

CE-marked for in vitro diagnostic (IVD) use.

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List Prices Documentation

Key related products

SALSA MLPA Probemix P296 aHUS

Contains probes for the genes CD46 and CFI.

View all

Intended purpose

The SALSA MLPA Probemix P236 CFH Region is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the CFH, CFHR1, CFHR2, CFHR3, CFHR4 and CFHR5 genes in genomic DNA isolated from human peripheral whole blood specimens. P236 CFH Region is intended to confirm a potential cause for and clinical diagnosis of atypical hemolytic uremic syndrome (aHUS), systemic lupus erythematosus (SLE) or C3 glomerulopathy, and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Hemolytic uremic syndrome (HUS) is a rare disease characterised by haemolytic anaemia, thrombocytopenia and acute renal failure. Most cases result from infections with Shigatoxin-producing E. coli (STEC). Around 10% of HUS cases are not associated with STEC infections (atypical HUS, aHUS). The onset of aHUS ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Predisposition to aHUS is inherited in an autosomal recessive or autosomal dominant manner with incomplete penetrance.

aHUS is caused by hyperactivation of the alternative complement pathway. This hyperactivation can be due to mutations in complement regulators (CFH, CFI and CFHR proteins). Patients with genetic aHUS predominantly carry pathogenic variants in complement factor H (CFH), membrane cofactor protein CD46 (CD46) and complement factor I (CFI). The latter two genes are covered by probes in SALSA MLPA Probemix P296 aHUS. Genetic aHUS can also be caused by large genomic rearrangements in the CFH region (CFH, CFHR1, CFHR2, CFHR3, CFHR4 and CFHR5) through mechanisms of gene conversion and non-homologous recombination. The CFH, CFHR3, CFHR1, CFHR4, CFHR2 and CFHR5 genes are arranged in tandem in the 1q31.3 region, approximately 195 Mb from the p-telomere. Most major rearrangements in the CFH region result in the deletion of the neighbouring CFHR1 and CFHR3 genes and, occasionally, in the generation of CFH::CFHR1 hybrid genes (Szarvas et al. 2016; Valoti et al. 2014; Venables et al. 2006; Zipfel et al. 2007). Gene rearrangements without copy number changes will not be identified by MLPA.

CFHR1-CFHR3 deletions have also been reported to occur in healthy individuals, with ethnic variations in its prevalence, including ~50% of Africans, ~25% in Europeans and less than 10% of Asians (https://www.ncbi.nlm.nih.gov/books/NBK1367/). CFHR1-CFHR3 deletions are associated with a decreased risk of developing age-related macular degeneration (ARMD). This deletion was found in nearly 20% of the chromosomes of control individuals and in only 8% of the chromosomes of individuals with ARMD (Hughes et al. 2006).

Copy number changes in the CFH region are also associated with an increased risk for the polygenic autoimmune disease systemic lupus erythematosus (SLE) (Zhao et al. 2011) and the complement-mediated renal disease C3 glomerulopathy (https://www.ncbi.nlm.nih.gov/books/NBK1425/).

Regulatory status

SALSA MLPA Probemix P236 CFH Region is CE-marked for in vitro diagnostic (IVD) use.

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

SALSA Sample DNA for this product

SALSA Reference Selection DNA SD072 can be used to aid in the selection of suitable reference samples for the P236 CFH Region probemix. Reference Selection DNA can only be used in initial experiments on DNA samples from healthy individuals from your sample collection with the intention to identify suitable reference samples. SD072 cannot be used as a reference sample in subsequent experiments.

SD072 is not supplied by default with orders of the P236 CFH Region probemix, and must be ordered separately.

For more information, see the product description.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P236-025R
SALSA MLPA Probemix P236 CFH Region – 25 rxn
MLPA
€ 281.00
P236-050R
SALSA MLPA Probemix P236 CFH Region – 50 rxn
MLPA
€ 550.00
P236-100R
SALSA MLPA Probemix P236 CFH Region – 100 rxn
MLPA
€ 1075.00

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
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00

Sample DNAs (available separately)

A vial can be ordered separately, but is not included by default with orders of this probemix.

Item no.
Description
Technology
Price
SD072
SALSA Reference Selection DNA SD072 – 20 rxn
MLPA
€ 59.00

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 (B1) version of this product and have been shown to produce useful results.

  • Coriell HG01770: Heterozygous deletion affecting the probes for CFHR3 and CFHR1.
  • Coriell HG01894: Heterozygous deletion affecting the probes for CFHR3 and CFHR1.
  • Coriell NA00214: Heterozygous deletion affecting the probes for CFH, CFHR1, CFHR2, CFHR3, CFHR4 and CFHR5.
  • Coriell NA00501: Heterozygous deletion affecting the probes for CFHR3 and CFHR4. Homozygous deletion affecting the probes for CFHR1.

Resources

General MLPA resources

MLPA education

Publications

References

  • Hughes AE et al. (2006). A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nat Genet. 38:1173-7.
  • Szarvas N et al. (2016). Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome. Mol Immunol. 71:10-22.
  • Valoti E et al. (2015). A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation. J Am Soc Nephrol. 26:209-19.
  • Venables JP et al. (2006). Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. PLoS Med. 3:e431.
  • Zhao J et al. (2011). Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. PLoS Genet. 7:e1002079.
  • Zipfel PF et al. (2007). Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genet. 3:e41.
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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.