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P075 TCF4-FOXG1

SALSA MLPA Probemix P075 TCF4-FOXG1 detects copy number variations in the TCF4 and FOXG1 genes.

Specifications

Contents: 50 MLPA probes, including 35 probes for the TCF4 region (covering all TCF4 exons), and 5 probes for the FOXG1 region.

Tissue: human genomic DNA.

Application: research on Pitt-Hopkins syndrome (PTHS).

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

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List Prices Documentation

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General information

The SALSA MLPA Probemix P075 TCF4-FOXG1 is a research use only (RUO) assay for the detection of deletions or duplications in the TCF4 and FOXG1 genes, which are associated with Pitt-Hopkins syndrome (PTHS).

PTHS is a rare disorder characterized by severe intellectual disability, pervasive developmental delay, 'atypical' autistic characteristics, and hyperventilation. PTHS is caused by heterozygous hypomorphic or null mutation or deletion of the transcription factor 4 (TCF4; E2-2; ITF2) gene on human chromosome 18. The TCF4 gene is also a risk factor with highly significant linkage to schizophrenia, presumably via overexpression of the TCF4 gene product in the central nervous system.

Another disorder that has some phenotypical overlap with PTHS is the congenital variant of Rett syndrome. This syndrome occurs almost exclusively in females and is characterized by hypotonia and intellectual disability from the very first months of life. It has been reported that the main cause of the congenital variant of Rett syndrome is mutations in the FOXG1 gene, which encodes a transcription factor of the forkhead family on chromosome 14.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK100240/.

Regulatory status

SALSA MLPA Probemix P075 TCF4-FOXG1 is for research use only (RUO) in all territories.

Product documentation

Version B2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P075-025R
SALSA MLPA Probemix P075 TCF4-FOXG1 – 25 rxn
MLPA
€ 286.00
P075-050R
SALSA MLPA Probemix P075 TCF4-FOXG1 – 50 rxn
MLPA
€ 560.00
P075-100R
SALSA MLPA Probemix P075 TCF4-FOXG1 – 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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