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SALSA MLPA Probemix P311 Congenital Heart Disease

Congenital Heart Disease (CHD)

Region: GATA4 8p23, NKX2-5 5q35, TBX5 12q24, BMP4 14q22, CRELD1 3p25

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.

Congenital heart disease (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.

Probemix content: The SALSA MLPA Probemix P311-B2 CHD contains 41 MLPA probes with amplification products between 124 and 475 nt. This includes: eight probes for the GATA4 gene; four probes for the NKX2-5 gene; ten probes for the TBX5 gene; four probes for the BMP4 gene; two probes for the CRELD1 gene; and three probes for the 22q11.21 region (DiGeorge region). In addition, nine references probes are included, that detect nine different autosomal chromosomal locations.

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, 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
P311-025R
SALSA MLPA Probemix P311 Congenital Heart Disease – 25 rxn
€ 243.00
P311-050R
SALSA MLPA Probemix P311 Congenital Heart Disease – 50 rxn
€ 486.00
P311-100R
SALSA MLPA Probemix P311 Congenital Heart Disease – 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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