Choose your country to see the products for your location

P473 CTNS

SALSA MLPA Probemix P473 CTNS detects copy number variations in the CTNS gene.

Specifications

Contents: 31 MLPA probes, including 16 probes for CTNS (covering all exons), and a probe for CTNS c.414G>A (p.Trp138Ter; W138X).

Tissue: human genomic DNA.

Application: research on cystinosis.

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

Quick links

List Prices Documentation

General information

The SALSA MLPA Probemix P473 CTNS is a research use only (RUO) assay for the detection of deletions or duplications in the CTNS gene, which is associated with cystinosis. This probemix can also be used to detect the presence of the CTNS c.414G>A (p.Trp138Ter; W138X) point mutation.

Cystinosis is classified as a lysosomal storage disorder and is inherited in an autosomal recessive manner. Cystinosis can be divided in three categories: 1) nephropathic cystinosis, 2) intermediate cystinosis/late-onset juvenile or adolescent nephropathic cystinosis, and 3) ocular non-nephropathic cystinosis. Nephropathic cystinosis is characterised by renal tubular Fanconi syndrome, poor growth, impaired glomerular function and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. A typical untreated child has short stature, rickets and photophobia. The first signs of the disease are generally noticed after approximately six months of age. Intermediate cystinosis is characterised by all the typical manifestations of nephropathic cystinosis, but onset is at a later age, usually between the age of 15 and 25 years. Ocular non-nephropathic cystinosis is characterised clinically only by photophobia resulting from corneal cystine crystal accumulation.

Defects in the CTNS gene on chromosome 17 are the main cause of cystinosis. The CTNS gene (13 exons) spans ~26.6 kb of genomic DNA and is located on 17p13.3, 3.6 Mb from the p-telomere. The protein encoded by this gene is cystinosin, an integral lysosomal membrane protein. Several articles have described large deletions in the CTNS gene in individuals affected with cystinosis, such as a 9.5 to 16 kb deletion (Forestier et al. 1999) and a 65 kb deletion (Shotelersuk et al. 1998). The latter deletion was later corrected to a 57 kb deletion that includes the SHPK (CARKL) gene (Touchman et al. 2000; Gahl et al. 2002). This 57 kb deletion is found in almost 50% of affected individuals from Northern European descent. The most common point mutation that is found in affected individuals is the c.414G>A (p.Trp138Ter; W138X) mutation. This mutation was found in 14 out of 108 samples (Shotelersuk et al. 1998).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1400/.

Regulatory status

SALSA MLPA Probemix P473 CTNS is for research use only (RUO) in all territories.

SALSA Sample DNA for this product

SALSA Binning DNA SD064 is an artificial DNA sample with a signal for all probes in the P473 CTNS probemix. Inclusion of a reaction with SD064 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 SD064 is included with every order of the P473 CTNS probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version A2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P473-025R
SALSA MLPA Probemix P473 CTNS – 25 rxn
MLPA
€ 286.00
P473-050R
SALSA MLPA Probemix P473 CTNS – 50 rxn
MLPA
€ 560.00
P473-100R
SALSA MLPA Probemix P473 CTNS – 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
SD064
SALSA Binning DNA SD064 – 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.

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

  • Coriell NA06047: Heterozygous deletion affecting the probes for SHPK and CTNS.

Resources

General MLPA resources

MLPA education

This site uses cookies to help improve your online experience. Learn more
No, thank you accept

Sign in

Don't have an account? Create one

Forgot password?

Select Your Country

Choose your country to see the products for your location