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P028 FHL

SALSA MLPA Probemix P028 FHL detects copy number variations in the UNC13D, PRF1 and STX11 genes.

Specifications

Contents: 44 MLPA probes, including 30 probes for UNC13D, 3 probes for PRF1, and 2 probes for STX11.

Tissue: human genomic DNA.

Application: research on familial haemophagocytic lymphohistiocytosis (FHL).

For research use only (RUO). Not for use in diagnostics.

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List Prices Documentation

General information

The SALSA MLPA Probemix P028 FHL is a research use only (RUO) assay for the detection of deletions or duplications in the UNC13D, PRF1 and STX11 genes, which are associated with familial haemophagocytic lymphohistiocytosis (FHL).

FHL is a rare autosomal recessive disorder associated with perforin (PRF1) deficiency or a disruption of perforin delivery, which lead to impaired immune activity of cytotoxic T lymphocytes and Natural Killer (NK) cells (Brennan et al. 2010). To compensate for the loss of functional T cells and NK cells, an exaggerated immune response is triggered that is characteristic for FHL. Massive organ infiltration by activated lymphocytes and macrophages can be observed. Other symptoms include persistent fever, hepatosplenomegaly and cytopenia. First episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Five FHL subtypes (FHL1, FHL2, FHL3, FHL4, FHL5) have been described. Mutations in the UNC13D gene are associated with FHL3, defects in the PRF1 gene cause FHL2, and STX11 mutations cause FHL4.

The UNC13D gene (32 exons) spans ~17 kb of genomic DNA and is located on chromosome 17q25.1, ~71 Mb from the p-telomere. The PRF1 gene (3 exons) spans ~5.4 kb of genomic DNA and is located on chromosome 10q22.1, 72 Mb from the p-telomere. The STX11 gene (2 exons) spans ~41 kb of genomic DNA and is located on chromosome 6q24.2, ~145 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1444/.

Regulatory status

SALSA MLPA Probemix P028 FHL is for research use only (RUO) in all territories.

Product documentation

Version B2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P028-025R
SALSA MLPA Probemix P028 FHL – 25 rxn
MLPA
€ 296.00
P028-050R
SALSA MLPA Probemix P028 FHL – 50 rxn
MLPA
€ 580.00
P028-100R
SALSA MLPA Probemix P028 FHL – 100 rxn
MLPA
€ 1135.00

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
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

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

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