Comprehensive Carrier Screening Panel
CARRIER SCREENING mother's (single) or both parents (couple) for 2240 genes, which are inherited in an autosomal recessive manner. The methodology is based on WHOLE EXOME SEQUENCING (WES) with coverage> 100X: Sequencing 22.000 human genes with NGS and MONO analysis of 2240 genes associated with inherited genetic diseases, including Cystic Fibrosis, Spinal Muscle Atrophy, Deafness, etc.
Response time 4-6 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.
Following his instructions ACMG for incidental findings, the possibility of analysis of 73 genes defined by ACMG, no extra charge.
Read more about Secondary Findings
The WES sequences all 22,000 human genes with average coverage 100X. In 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 ACMG guidelines and international databases (Clinvar, OMIM, GnomAD, dbNSFP CADD etc.). Because databases are frequently updated, we reanalyze the data every 6-8 months.
See HERE the detailed table of 2240 genes and 73 of ACMG genes.