The aneuploidies that are analyzed are those located on chromosomes 13, 18, 21, X, Y and 14.
Panel of frequent syndromes (intellectual disability)
The intellectual disabilities detected by this study are those caused by the -1p deletion and the Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen and Sotos syndromes.
Technology used MLPA:
The MLPA (multiplex ligation-dependent probe amplification) is a multiplex PCR method semiquantitative that detects abnormal copy numbers of up to 50 DNA sequences genomic or different RNA, which is able to distinguish sequences that differ in a single nucleotide. The probes are bound to the DNA, ligated and amplified by PCR. The results are obtained using a capillary sequencer.
Although for most hereditary (partial) diseases the deletions or genetic duplications account for less than 10% of all mutations causing the disease, for many other disorders this is 10 to 30% or even higher. The inclusion of MLPA in clinical settings can therefore significantly increase the detection rate of many genetic disorders.