Choose your country to see the products for your location

P219 PAX6

SALSA MLPA Probemix P219 PAX6 detects copy number variations in the 11p13-14 region, including the PAX6 and WT1 genes, and the SOX2 gene on 3q26.

Specifications

Contents: 44 MLPA probes, including 32 probes for the 11p13-14 region (which includes PAX6 and WT1), and 3 probes for SOX2.

Tissue: human genomic DNA.

Application: research on hereditary ocular malformations.

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

Quick links

List Prices Documentation

Key related products

P118 WT1

Contains more probes for the WT1 gene.

P229 OPA1

Contains probes for OPA1, involved in optic atrophy type 1.

View all

General information

The SALSA MLPA Probemix P219 PAX6 is a research use only (RUO) assay for the detection of deletions or duplications in the 11p13-14 region, which includes the PAX6 and WT1 genes, and the SOX2 gene on 3q26, which are associated with hereditary ocular malformations.

In the human eye morphogenesis a molecular genetic cascade is involved. A number of developmental genes interact in a highly organized process during the embryonic period, to produce functional ocular structures. During the early stages of eye development, PAX6 induces the differentiation of progenitor cells into neurons in the retina, as well as the expression of crystallins in lens epithelial cells. PAX6 mutations lead to a variety of hereditary ocular malformations of the anterior and posterior segment that includes aniridia, coloboma of the iris, keratitis, congenital cataracts, Peter's anomaly, and optic nerve defects.

WT1 is required for at least two critical functions during retinogenesis: proliferation of the progenitor cells and development of the retinal ganglion cells. The WT1 gene is often co-deleted with PAX6 in patients with Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. The SOX2 gene encodes a transcription factor involved in the regulation of embryonic development. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1360/.

Regulatory status

SALSA MLPA Probemix P219 PAX6 is for research use only (RUO) in all territories.

Product documentation

Version B4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P219-025R
SALSA MLPA Probemix P219 PAX6 – 25 rxn
MLPA
€ 286.00
P219-050R
SALSA MLPA Probemix P219 PAX6 – 50 rxn
MLPA
€ 560.00
P219-100R
SALSA MLPA Probemix P219 PAX6 – 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

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