Choose your country to see the products for your location

SALSA MLPA Probemix P395 MEF2C-FOXG1

intellectual disability

Region: MEF2C 5q14.3, FOXG1 14q12

MLPA | Improved
General information
The SALSA MLPA Probemix P395 MEF2C-FOXG1 is a research use only (RUO) assay for the detection of deletions or duplications in the MEF2C and FOXG1 genes, which are associated with intellectual disability.

Intellectual disability can be provoked by different chromosomal aberrations, for example deletions of the chromosomal regions 5q14.3 and 14q12. Deletions of the 5q14.3 region mainly affect the MEF2C gene encoding myocyte enhancer factor 2C. It was shown that microdeletions in this gene are involved in severe intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformation (Zweier 2010; Le Meur 2010; Nowakowska 2010). Another gene that has been implicated in intellectual disability is the FOXG1 gene encoding forkhead box G1. Copy number variants (Mencarelli 2009; Kortüm 2011; OMIM #613454), as well as point mutations (Bahi-Buisson 2010; Allou 2012) have been described in literature as a potential cause of a Rett-like phenotype.

More information on MEF2C is available at https://www.omim.org/entry/600662
More information on FOXG1 is available at https://www.omim.org/entry/164874

This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P395-B1 MEF2C-FOXG1 contains 42 MLPA probes with amplification products between 130 and 472 nucleotides (nt). This includes 22 probes for the MEF2C gene, two probes targeting sequences located upstream and two probes targeting sequences located downstream of the MEF2C gene, and five probes targeting the FOXG1 gene. In addition, 11 reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 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.mrcholland.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P395-025R
SALSA MLPA Probemix P395 MEF2C-FOXG1 – 25 rxn
€ 243.00
P395-050R
SALSA MLPA Probemix P395 MEF2C-FOXG1 – 50 rxn
€ 486.00
P395-100R
SALSA MLPA Probemix P395 MEF2C-FOXG1 – 100 rxn
€ 972.00

Required Reagents (Sold Separately)

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

Related Products

SALSA MLPA Probemix P015 MECP2

Contains probes for the MECP2 gene and several other genes involved in Rett syndrome.

SALSA MLPA Probemix P036 Subtelomeres Mix 1

Contains a probe for every human subtelomere.

SALSA MLPA Probemix P064 Microdeletion Syndromes-1B

Contains probes for different microdeletion syndromes; can be used for primary screening of microdeletion syndromes.

SALSA MLPA Probemix P070 Subtelomeres Mix 2B

Contains a probe for every human subtelomere. Can be used as confirmation probemix of P036 Subtelomere Mix 1.

SALSA MLPA Probemix P106 X-linked ID

Contains probes for various genes involved in X-linked mental retardation.

SALSA MLPA Probemix P189 CDKL5/ARX/FOXG1

Contains probes for FOXG1 and several other genes involved in Rett syndrome.

SALSA MLPA Probemix P245 Microdeletion Syndromes-1A

Contains probes for different microdeletion syndromes; can be used for primary screening of microdeletion syndromes.

Sign in

Don't have an account? Create one

Forgot password?

Select Your Country

Choose your country to see the products for your location

Improvements

Some target and reference probes replaced. Two target probes added, four probes changed in length.