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P080 Craniofacial

SALSA MLPA Probemix P080 Craniofacial detects copy number variations in the FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX4, ALX3, ALX1, RUNX2 and EFNB1 genes.

Specifications

Contents: 48 MLPA probes, including 2 probes for FGFR1, 2 probes for FGFR2, 2 probes for FGFR3, 4 probes for TWIST1, 2 probes for MSX2, 3 probes for ALX4, 4 probes for ALX3, 5 probes for ALX1, 9 probes for RUNX2 and 5 probes for EFNB1.

Tissue: human genomic DNA.

Application: research on various craniofacial disorders.

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

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List Prices Documentation

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Contains probes for TCOF1, involved in Treacher Collins-Franceschetti 1.

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General information

The SALSA MLPA Probemix P080 Craniofacial is a research use only (RUO) assay for the detection of deletions or duplications in the FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX4, ALX3, ALX1, RUNX2 and EFNB1genes, which is associated with several craniofacial disorders. This probemix can also be used to detect the presence of the wild-type sequences of the FGFR2 c.755C>G and the FGFR3 c.749C>G point mutations.

The FGFR1, FGFR2 and FGFR3 genes encode growth factors and cause a diverse group of skeletal disorders. In general, mutations in FGFR1 and FGFR2 mostly cause craniosynostosis (premature fusion of the cranial sutures). Dwarfing syndromes are often associated with FGFR3 mutations.

Deletion of the TWIST1 gene is the cause of disease in an estimated 11% of Saethre-Chotzen syndrome patients. Also included is a probe for the TWISTNB (TWIST nearby) gene located at a distance of ~500 kb from TWIST1. Large deletions of the TWIST region often result in intellectual disability.

Dosage of the MSX2 gene is critical for human skull development. Enlarged parietal foramina and craniosynostosis can result, respectively, from loss and gain of activity in an MSX2 pathway of calvarial osteogenic differentiation.

Mutations in ALX4 can result in parietal foramina as well as craniosynostosis. Potocki-Shaffer syndrome, also known as the proximal 11p deletion syndrome, is a contiguous gene syndrome caused by deletion of the 11p13-p11 region. Mutations in the ALX3 gene can result in frontonasal dysplasia. The ALX1 gene is known to be essential for normal skull bone development; null mice are born with severe craniofacial defects such as a lacking cranium.

Defects in the RUNX2 gene cause the dominant disorder cleidocranial dysplasia.

Loss-of-function mutations in the EFNB1 gene cause craniofrontonasal syndrome.

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

Regulatory status

SALSA MLPA Probemix P080 Craniofacial 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
P080-025R
SALSA MLPA Probemix P080 Craniofacial – 25 rxn
MLPA
€ 286.00
P080-050R
SALSA MLPA Probemix P080 Craniofacial – 50 rxn
MLPA
€ 560.00
P080-100R
SALSA MLPA Probemix P080 Craniofacial – 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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