Choose your country to see the products for your location

P366 CHM-RP2-RPGR

SALSA MLPA Probemix P366 CHM-RP2-RPGR detects copy number variations in the CHM, RP2 and RPGR genes.

Specifications

Contents: 48 MLPA probes, including 16 probes for RPGR, 5 probes for RP2, and 18 probes for CHM.

Tissue: human genomic DNA.

Application: research on X-linked retinitis pigmentosa and choroideremia.

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

Quick links

List Prices Documentation

Key related products

P235 Retinitis

Contains probes for RHO, IMPDH1, PRPF31 and RP1.

P328 EYS

Contains probes for the EYS gene, involved in Retinitis Pigmentosa 25.

P361 USH2A mix 1

Contains probes for the USH2A gene, involved in Usher Syndrome.

View all

General information

The SALSA MLPA Probemix P366 CHM-RP2-RPGR is a research use only (RUO) assay for the detection of deletions or duplications in the CHM, RP2 and RPGR genes, which are associated with X-linked retinitis pigmentosa and choroideremia.

Retinitis pigmentosa (RP) (prevalence 1/4000) is a hereditary degenerative disease of the photoreceptor neurons of the retina. RP is characterized by progressive degeneration of the peripheral retina (leading to night blindness), loss of the peripheral visual field and an abnormal electroretinogram. X-linked Retinitis Pigmentosa (xlRP) accounts for 5-15% of all RP syndromes. Mutations in the RPGR (also called RP3) and RP2 genes are the most common causes of xlRP, responsible for 70-90% and 10-20% of the xlRP cases, respectively.

Choroideremia (CHM) is another X-linked recessive retinal degeneration disease which could be confused with X-linked retinitis pigmentosa. CHM is a rare inherited disorder that causes progressive loss of vision due to degeneration of the choroid and retina. This progressive X-linked retinopathy is caused by the deletion of the CHM gene which encodes the Rab escort protein1 (REP1). REP1 is involved in the prenylation of Rabs. Under-prenylation of Rabs could affect vesicular trafficking, exocytosis and secretion in peripheral cells of CHM patients.

The RPGR gene (19 exons) spans ~58 kb of genomic DNA and is located on Xp11.4, 38 Mb from the p-telomere.The RP2 gene (5 exons) spans ~45 kb of genomic DNA and is located on Xp11.3, 47 Mb from the p-telomere.The CHM gene (16 exons) spans ~186 kb of genomic DNA and is located on Xq21.2, 85 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1417/ and https://www.ncbi.nlm.nih.gov/books/NBK1337/.

Regulatory status

SALSA MLPA Probemix P366 CHM-RP2-RPGR is for research use only (RUO) in all territories.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P366-025R
SALSA MLPA Probemix P366 CHM-RP2-RPGR – 25 rxn
MLPA
€ 296.00
P366-050R
SALSA MLPA Probemix P366 CHM-RP2-RPGR – 50 rxn
MLPA
€ 580.00
P366-100R
SALSA MLPA Probemix P366 CHM-RP2-RPGR – 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

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