Definition

In addition to standard exome sequencing, copy number variations (deletion/duplication) are also detected from the same NGS data using read-depth-based algorithms; this approach has shown 98.91% concordance compared to chromosomal microarray. In movement disorders, muscle diseases, and neuropathies, ~7% of diagnostic causes arise from CNVs.

Method

Next-Generation Sequencing, CNV Analysis

Accepted sample types

EDTA Blood

Description

Analyzes exons and exon-intron junction regions belonging to ~22,000 gene regions, along with CNVs. In addition to WES, exon-level copy number changes (CNV) in genes are also examined in detail. Analysis depth is 200X coverage. Provides detailed investigation of genetic diseases of unknown cause.

Inheritance

Studied in a germline context, targeting both point mutations and germline copy number variations associated with hereditary/congenital disease.

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