Test Code: WESIND

Genes: All Protein Coding Genes, mitochondrial genes. (20000 genes)

Sample Type: Blood

Method: Capture-based target enrichment and Next Generation. Sequencing

Turnaround Time: 3 - 4 weeks

Courier: Ship overnight at room temperature to receive next day. Maintain specimen at room temperature.

Price: 2000

Description:
Exome sequencing analyzes approximately 20,000 protein-coding genes, including the complete mitochondrial genome, to detect pathogenic single nucleotide variants, small insertions and deletions, and mitochondrial mutations associated with a broad spectrum of genetic disorders. The assay also includes exon-level copy number variant (CNV) detection and evaluation of loss of heterozygosity (LOH), which may indicate uniparental disomy, consanguinity, or chromosomal anomalies. Collectively, these analyses provide a comprehensive genomic assessment to support diagnosis, inform clinical management, and guide familial risk evaluation. The combination of Twist's proprietary double-stranded DNA (dsDNA) probes with optimized library preparation and capture reagents delivers industry-leading uniformity of coverage and the lowest duplicate rates, enabling the generation of high-quality sequencing data. The Twist Comprehensive Exome panel targets 36.8 Mb of human protein-coding regions, covering over 99% of the RefSeq, CCDS, and GENCODE databases.
ACMG73 100%; CCDS 100%; CliVar 100%; GenCode v35 99%; RefSeq 100%.