We evaluate by NGS several genetic variants associated to an increased susceptibility to develop Adolescent Idiopathic Scoliosis. A positive result allows confirmation of the genetic diagnosis and allows adequate decision-making in the clinical management of Adolescent Idiopathic Scoliosis.
We evaluate by NGS several pathogenic variants related with the development of rare muscular dystrophies. A positive result allows confirmation of the genetic diagnosis and allows adequate decision-making in the clinical management of the disease.
Analysis of the DNA sequences of all the coding regions of the genome. We use Illumina NextSeq 500 ™ sequencing to performe Exome Sequencing analysis.