NGS-based mutation analysis of genes causing inborn errors of metabolism
Neonatal screening programs implemented in Spain cover the screening of a variable number of genetic diseases, ranging from 3 to over 20. The interregional Council of the National Health Service (SNS) approved on Tuesday July 23, 2013, creating a unique portfolio of neonatal screening, which includes testing for seven condition in all Spanish newborns for the early detection of the following conditions: congenital hypothyroidism, phenylketonuria, cystic fibrosis, deficiency of acyl coenzyme A dehydrogenase, medium chain (mcadd) deficiency, 3-hydroxyl acyl-CoA dehydrogenase in long (LCHADD), glutaric acidemia type 1 and sickle cell anemia.
These programs are intended to identify inborn errors of metabolism before they manifest clinical symptoms, thus avoiding or minimizing their consequences (mental retardation, developmental delay and even premature death of the newborn). After the initial biochemical testing performed on blood obtained from the newborn heel, in case of a positive result, the infant will be referred to a specialist to perform additional testing and, eventually, a genetic study for definitive diagnosis.
A single, integrative, genetic test
qSeq Easy® Neonatal is based on an NGS gene capture assay that qGenomics developed in collaboration with researchers from different reference research institutes in genomics and in the study of these diseases. In a single experiment we analyze the entire coding regions (exons), intron / exon boundaries, and deep intronic regions of more than 70 genes that may be mutated when one of this disease conditions is suspected. This approach allows 1) having a single procedure for the analysis of mutations in all genes, 2) reduce the cost per analysis, and 3) reduce the turn-around time. This assay enables us, with high reliability, identify any mutation present in any portion of these genes.
Available analysis services