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P426 Cystinuria

SALSA MLPA Probemix P426 Cystinuria detects copy number variations in the SLC3A1, PREPL and SLC7A9 genes.

Specifications

Contents: 48 MLPA probes, including 10 probes for SLC3A1 (covering all exons), 12 probes for PREPL, and 13 probes for SLC7A9 (covering all exons).

Tissue: human genomic DNA.

Application: research on cystinuria, and hypotonia-cystinuria syndrome.

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P426 Cystinuria is a research use only (RUO) assay for the detection of deletions or duplications in the SLC3A1, PREPL and SLC7A9 genes, which are associated with cystinuria and hypotonia-cystinuria syndrome.

Cystinuria (OMIM #220100) is a disorder characterised by impaired reabsorption of cystine and dibasic amino acids (lysine, ornithine and arginine) in the brush border membrane of the proximal renal tubule and in the epithelial cells of the gastrointestinal tract. This eventually leads to accumulation of (cystine) crystals or stones in the kidneys and bladder, resulting in obstructive uropathy, pyelonephritis and sometimes renal failure. Thus far, two genes have been identified to cause cystinuria, SLC3A1 and SLC7A9, which encode parts of a transporter protein complex.

A large number of mutations in these genes have been identified in cystinuria, including deletions and duplications. Larger deletions affecting SLC3A1 might result in the so-called hypotonia-cystinuria syndrome (OMIM #606407). This autosomal recessive congenital disorder is associated with deletions of at least the SLC3A1 and nearby PREPL genes on chromosome 2p21. The main clinical features include a generalised hypotonia at birth, failure to thrive, intellectual disability and cystinuria.

SLC3A1 (~46 kb of genomic DNA; 10 exons) and PREPL (~41 kb of genomic DNA; 15 exons) are consecutively located on chromosome 2p21, about 44 Mb from the p-telomere. The SLC7A9 gene (13 exons) spans ~39 kb of genomic DNA and is located on chromosome 19q13.11, about 38 Mb from the p-telomere.

Regulatory status

SALSA MLPA Probemix P426 Cystinuria is for research use only (RUO) in all territories.

Product documentation

Version A2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P426-025R
SALSA MLPA Probemix P426 Cystinuria – 25 rxn
MLPA
€ 296.00
P426-050R
SALSA MLPA Probemix P426 Cystinuria – 50 rxn
MLPA
€ 580.00
P426-100R
SALSA MLPA Probemix P426 Cystinuria – 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.

The commercially available positive samples below can be used with the current (A2) version of this product.

  • Coriell NA10401: Heterozygous duplication affecting the probes for PPM1B, SLC3A1, PREPL and CAMKMT.
  • Coriell NA13451: Heterozygous deletion affecting the probes for PPM1B, SLC3A1, PREPL and CAMKMT.

Resources

General MLPA resources

MLPA education

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