SALSA MLPA Probemix P201 CHARGE detects copy number variations in the CHD7 gene.
Contents: 49 MLPA probes, including 41 probes for CHD7.
Tissue: human genomic DNA.
Application: research on CHARGE syndrome.
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P201 CHARGE is a research use only (RUO) assay for the detection of deletions or duplications in the CHD7 gene, which is associated with CHARGE syndrome.
CHARGE syndrome is an autosomal dominant disorder that affects many areas of the body and has an incidence of approximately 1:10.000. The pattern of malformations varies among individuals with this disorder, and infants often have multiple life-threatening medical conditions. The term CHARGE is an acronym for the set of clinical features observed in patients and stands for Coloboma, Heart disease, Atresia choanae, Retarded growth and retarded development and/or CNS anomalies, Genital hypoplasia, and Ear anomalies and/or deafness.
Mutations in the Chromodomain Helicase DNA-Binding Protein 7 (CHD7) gene have been found to be responsible for more than half of the CHARGE syndrome cases. CHD7 is the only gene currently known to be associated with CHARGE syndrome.
The CHD7 gene has 38 exons, spans ~189 kb of genomic DNA, and is located on chromosome 8q12.2, about 61 Mb from the p-telomere.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1117/.
SALSA MLPA Probemix P201 CHARGE is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
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.
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.
See this support article for commercially available positive samples that can be used with this product.