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P311 Congenital Heart Disease

SALSA MLPA Probemix P311 CHD detects copy number variations in the GATA4, NKX2-5, TBX5, BMP4 and CRELD1 genes and of the 22q11.21 region (DiGeorge region).

Specifications

Contents: 41 MLPA probes, including 6 probes for GATA4, 4 probes for NKX2-5, 10 probes for TBX5, 4 probes for BMP4, 2 probes for CRELD1, and 3 probes for the 22q11.21 region (DiGeorge region).

Tissue: human genomic DNA.

Application: research on congenital heart disease (CHD).

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

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List Prices Documentation

Key related products

P234 GATA3 - GATA4

Contains probes for the GATA3 and GATA4 genes.

P250 DiGeorge

Contains probes for the 22q11 DiGeorge region.

View all

General information

The SALSA MLPA Probemix P311 CHD is a research use only (RUO) assay for the detection of deletions or duplications in the GATA4, NKX2-5, TBX5, BMP4, and CRELD1 genes and of the 22q11.21 region (DiGeorge region), which are associated with congenital heart disease (CHD).

CHD is a common birth defect, of which ventricular septal defects are collectively the most common type. Abnormal cardiac development originates from both environmental and genetic factors. Multiple studies postulate that mutations in several genes could be implicated in CHD.

The transcription factor GATA4 forms a complex with TBX5 which interacts with a heart muscle protein, α-myosin heavy chain. Another factor, the homeobox (developmental) gene, NKX2-5 also interacts with MYH6. Mutations of all these proteins are associated with both atrial and ventricular septal defects. In addition, NKX2-5 is associated with defects in the electrical conduction of the heart and TBX5 is related to the Holt-Oram syndrome which includes electrical conduction defects and abnormalities of the upper limb. Atrioventricular septal defect (AVSD) can also be caused by mutations in the gene encoding cell adhesion molecule CRELD1. Bone morphogenetic protein 4 (BMP4) was shown to have a critical role in functional heart formation in model animals; the loss of this protein resulted in various developmental defects.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK500252.

Regulatory status

SALSA MLPA Probemix P311 Congenital Heart Disease 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
P311-025R
SALSA MLPA Probemix P311 Congenital Heart Disease – 25 rxn
MLPA
€ 286.00
P311-050R
SALSA MLPA Probemix P311 Congenital Heart Disease – 50 rxn
MLPA
€ 560.00
P311-100R
SALSA MLPA Probemix P311 Congenital Heart Disease – 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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