CARRIER SCREENING - WHOLE EXOME SEQUENCING
CARRIER SCREENING of the mother (single) or both parents (couple) using WHOLE EXOME SEQUENCING (WES) 100X: Sequencing of 22,000 human genes with NGS and analysis ONLY of genes associated with inherited genetic diseases (> 1000 genes p. x cystic fibrosis, non-syndromic varicocele, etc.).
(Until the 16th week of pregnancy. Response time 4 weeks).
The ACOG (American College of Obstetricians and Gynecologists) in its directive No. 690, March 2017, approves the use of enlarged gene panels for carrier screening.
WES sequences all 22,000 human genes with an average coverage of 100X. At Neoscreen we process the data (raw data) with validated pipelines (Figure 2) using specialized algorithms (BWA, GATK4, Freebayes) and deliver a complete clinical report based on international databases (Clinvar, OMIM, GnomAD, dbNSFP). Because databases are frequently updated, we reanalyze the data every 16 months.