Choose your country to see the products for your location

P180 Limb malformations-2

SALSA MLPA Probemix P180 Limb Malformations-2 detects copy number variations in the SALL1, SALL4 and TBX5 genes.

Specifications

Contents: 29 MLPA probes, including 3 probes for SALL1, 4 probes for SALL4, and 13 probes for TBX5.

Tissue: human genomic DNA.

Application: research on limb malformations, including Townes-Brocks syndrome (TBS), Okihiro syndrome, and Holt-Oram syndrome (HOS).

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

Quick links

List Prices Documentation

Key related products

P179 Limb malformations-1

Targets GLI3, HOXD13, and ROR2, involved in several other limb malformations.

View all

General information

The SALSA MLPA Probemix P180 Limb Malformations-2 is a research use only (RUO) assay for the detection of deletions or duplications in the SALL1, SALL4, and TBX5 genes, which are associated with limb malformations.

The SALL1 gene product is a C2H2 zinc finger DNA binding protein which is associated with pericentromeric heterochromatin, and is a strong translational repressor. Mutations in SALL1 cause Townes-Brocks syndrome (TBS), characterised by radial limb malformation, anal abnormalities, abnormal shaped pinnae, and renal anomalies. All cases of TBS described so far are caused by point mutations or small deletions/insertions leading to a truncated protein product.

The SALL4 gene product is a C2H2 zinc finger DNA binding protein, which is thought to function as a transcription factor. Mutations in SALL4 cause a variety of phenotypes, including Okihiro syndrome (Duane-radial ray syndrome), characterised by an inability to abduct the eye and radial dysplasia, acro-renal-ocular syndrome, Holt-Oram Syndrome (see below), and malformations previously attributed to thalidomide embryopathy. Most mutations are point mutations or small deletions/insertions leading to a truncated protein product, however recently six large deletions have been associated with Okihiro syndrome.

The TBX5 gene product is a transcription factor of the T-box family which is particularly important for heart and upper limb development. Point mutations and deletions in TBX5 have been shown to result in Holt-Oram syndrome (HOS), characterised by radial ray and cardiac (ASD, VSD, Mitral valve prolapse) defects. As the last three exons of TBX5 are separated by large introns, two probes have been included for these exons.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1373/, https://www.ncbi.nlm.nih.gov/books/NBK1111/ and https://www.ncbi.nlm.nih.gov/books/NBK1445/.

Regulatory status

SALSA MLPA Probemix P180 Limb malformations-2 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
P180-025R
SALSA MLPA Probemix P180 Limb malformations-2 – 25 rxn
MLPA
€ 286.00
P180-050R
SALSA MLPA Probemix P180 Limb malformations-2 – 50 rxn
MLPA
€ 560.00
P180-100R
SALSA MLPA Probemix P180 Limb malformations-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

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