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 C
eart disease, A
tresia choanae, R
etarded growth and retarded development and/or CNS anomalies, G
enital hypoplasia, and E
ar 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.
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/
The SALSA MLPA Probemix P201-C4 CHARGE contains 49 MLPA probes with amplification products between 130 and 481 nucleotides (nt). This includes 41 probe(s) for the CHD7
gene. In addition, eight 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.mlpa.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 (see table below). 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