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P222 LCA mix-2

SALSA MLPA Probemix P222 LCA mix-2 detects copy number variations in the GUCY2D, RDH12 and RPGRIP1 genes.

Specifications

Contents: 44 MLPA probes, including 18 probes for RPGRIP1, 7 probes for RDH12, 8 probes for GUCY2D, and 2 probes for CEP290 of which 1 detects the wild-type sequence of the c.2991+1655A>G mutation.

Tissue: human genomic DNA.

Application: research on Leber congenital amaurosis (LCA) syndrome.

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

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Key related products

P221 LCA mix-1

Targets AIPL1, CRB1, CRX, LCA5 and RPE65, also involved in Leber congenital amaurosis (LCA) syndrome.

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General information

The SALSA MLPA Probemix P222 LCA mix-2 is a research use only (RUO) assay for the detection of deletions or duplications in the GUCY2D, RDH12 and RPGRIP1 genes, which are associated with Leber Congenital Amaurosis (LCA). This probemix can also be used to detect the presence of the c.2991+1655A>G (rs281865192; p.Cys998X) point mutation in CEP290, which is also linked to LCA.

LCA comprises of a group of early-onset childhood retinal dystrophies and is characterised by vision loss, nystagmus and severe retinal dysfunction. It is the most common inherited cause of blindness. Pathogenic variants in at least seventeen genes are known to cause LCA. This probemix contains probes for four of these genes.

The protein encoded by the GUCY2D gene is retina-specific guanylate cyclase, located in the photoreceptor cells where it is involved in phototransduction. Defects in the GUCY2D gene account for 6-21% of all LCA cases. The protein encoded by the RDH12 gene is an NADPH-dependent retinal reductase, which metabolizes both trans- and cis-retinols. Defects in the RDH12 gene account for 4-10% of all LCA cases. The protein encoded by the RPGRIP1 gene is retinitis pigmentosa GTPase regulator interacting protein, a key component of photoreceptor cells. Defects in the RPGRIP1 gene account for ~5% of all LCA cases. The protein encoded by the CEP290 gene is centrosomal protein of 290 kDa, involved in ciliary assembly and ciliary trafficking of the photoreceptor cells. Defects in the CEP290 gene account for 15%-22% of all LCA cases. The intronic mutation c.2991+1655A>G is the most common CEP290 mutation associated with LCA and may account for up to 21% of LCA cases (den Hollander et al. 2006).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK531510/.

Regulatory status

SALSA MLPA Probemix P222 LCA mix-2 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
P222-025R
SALSA MLPA Probemix P222 LCA mix-2 – 25 rxn
MLPA
€ 286.00
P222-050R
SALSA MLPA Probemix P222 LCA mix-2 – 50 rxn
MLPA
€ 560.00
P222-100R
SALSA MLPA Probemix P222 LCA mix-2 – 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

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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