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P221 LCA mix-1

SALSA MLPA Probemix P221 LCA mix-1 detects copy number variations in the AIPL1, CRB1, CRX, LCA5 and RPE65 genes.

Specifications

Contents: 54 MLPA probes, including 6 probes for AIPL1, 9 probes for LCA5, 13 probes for CRB1, 14 probes for RPE65, and 4 probes for CRX.

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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List Prices Documentation

Key related products

P222 LCA mix-2

Targets GUCY2D, RDH12, RPGRIP1 and CEP290, also involved in Leber congenital amaurosis (LCA) syndrome.

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General information

The SALSA MLPA Probemix P221 LCA mix-1 is a research use only (RUO) assay for the detection of deletions or duplications in the AIPL1, CRB1, CRX, LCA5 and RPE65 genes, which are associated with Leber congenital amaurosis syndrome.

Leber congenital amaurosis (LCA) syndrome comprises 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 seventeen genes are known to cause LCA, five of these genes are covered by this probemix.

The AIPL1 gene encodes the aryl hydrocarbon receptor interacting protein-like 1, located in the retinal photoreceptor cells, where it may act as a molecular chaperone. Defects in the AIPL1 gene account for ~4%-8% of all LCA cases. The protein encoded by the CRB1 gene is crumbs family member 1, which plays a role in photoreceptor morphogenesis in the retina. Defects in this gene account for ~10% of all LCA cases. The CRX gene encodes the cone-rod homeobox protein, which regulates retinal photoreceptor cell-specific gene transcription and plays a role in the differentiation of photoreceptor cells. Defects in this gene account for ~3% of all LCA cases. Leber congenital amaurosis 5 protein is encoded by the LCA5 gene, and is involved in centrosomal or ciliary functions. Approximately 1%-2% of all LCA cases are caused by defects in the LCA5 gene. Lastly, the RPE65 gene encodes the retinal pigment epithelium-specific protein 65kDa, which is located in the retinal pigment epithelium where it is involved in the production of 11-cis retinal and in visual pigment regeneration. Defects in RPE65 account for 6%-16% of all LCA cases (Chacon-Camacho and Zenteno 2015).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1298/.

Regulatory status

SALSA MLPA Probemix P221 LCA mix-1 is for research use only (RUO) in all territories.

Product documentation

Version C2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P221-025R
SALSA MLPA Probemix P221 LCA mix-1 – 25 rxn
MLPA
€ 286.00
P221-050R
SALSA MLPA Probemix P221 LCA mix-1 – 50 rxn
MLPA
€ 560.00
P221-100R
SALSA MLPA Probemix P221 LCA mix-1 – 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.

The commercially available positive samples below can be used with the current (C2) version of this product.

  • Coriell HG01802: Heterozygous duplication affecting the probes for LCA5 on chromosome 6.
  • Coriell NA10946: Heterozygous deletion affecting the probes for LCA5 on chromosome 6.
  • Coriell HG02397: Heterozygous duplication affecting the probes for CRX on chromosome 19.
  • Coriell NA00214: Heterozygous deletion affecting the probes for CRB1 on chromosome 1.

Resources

General MLPA resources

MLPA education

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