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P179 Limb malformations-1

SALSA MLPA Probemix P179 Limb malformations-1 detects copy number variations in the GLI3, HOXD13 and ROR2 genes.

Specifications

Contents: 43 MLPA probes, including 21 probes for GLI3 (covering all exons), 2 probes for HOXD13, and 10 probes for ROR2 (covering all exons).

Tissue: human genomic DNA.

Application: research on limb malformations, including Greig cephalopolysyndactyly syndrome (GCPS), Pallister-Hall syndrome and Robinow syndrome.

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

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List Prices Documentation

Key related products

P180 Limb malformations-2

Contains probes for the SALL1, SALL4, and TBX5 genes.

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General information

The SALSA MLPA Probemix P179 Limb malformations-1 is a research use only (RUO) assay for the detection of deletions or duplications in the GLI3, HOXD13, and ROR2 genes, which are associated with limb malformations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome and Robinow syndrome.

The GLI3 gene encodes a protein that belongs to the C2H2-type zinc finger proteins. Defects in the GLI3 gene cause a wide variety of phenotypes, including Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome.

The HOXD13 gene encodes a transcription factor and is involved in distal limb patterning. Four types of HOXD13 mutations are associated with distinct phenotypes. Expansions in the amino-terminal polyalanine tract cause synpolydactyly (SPD), specific missense mutations cause brachydactyly type E, intragenic deletions or other missense mutations cause SPD with an additional foot phenotype, while a splice site mutation has been reported to cause only foot malformation.

The ROR2 gene encodes a transmembrane receptor tyrosine kinase, which is particularly important for the chondrocyte lineage. Mutations in ROR2 have been shown to result in brachydactyly type B, and in autosomal recessive Robinow syndrome.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1446/, https://www.ncbi.nlm.nih.gov/books/NBK1465/, and https://www.ncbi.nlm.nih.gov/books/NBK1240/.

Regulatory status

SALSA MLPA Probemix P179 Limb malformations-1 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
P179-025R
SALSA MLPA Probemix P179 Limb malformations-1 – 25 rxn
MLPA
€ 286.00
P179-050R
SALSA MLPA Probemix P179 Limb malformations-1 – 50 rxn
MLPA
€ 560.00
P179-100R
SALSA MLPA Probemix P179 Limb malformations-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.

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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