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SALSA MLPA Probemix P080 Craniofacial

Craniofacial disorders; FGFR-related craniosynostosis syndromes; Saethre-Chotzen syndrome; Potocki-Shaffer syndrome; Frontonasal dysplasia; Cleidocranial dysplasia; Craniofrontonasal syndrom

Region: FGFR1 8p12; FGFR2 10q26.13; FGFR3 4p16.3; TWIST1 7p21.1; MSX2 5q35.2; ALX4 11p11.2; ALX3 1p13.3; ALX1 12q21.31; RUNX2 6p12.3; EFNB1 Xq13.1

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 EFBN1 genes, which are 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 mental retardation.

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.

Probemix content: The SALSA MLPA Probemix P080-C2 Craniofacial contains 48 MLPA probes with amplification products between 122 and 504 nt. This includes 39 probes for the different genes involved in craniofacial disorders, as described in tables 1 and 2. In addition, nine reference probes are included and detect different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 121 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P080-025R
SALSA MLPA Probemix P080 Craniofacial – 25 rxn
€ 243.00
P080-050R
SALSA MLPA Probemix P080 Craniofacial – 50 rxn
€ 486.00
P080-100R
SALSA MLPA Probemix P080 Craniofacial – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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