DGS (Diagnostic Genome Sequencing)

• Test Code: ON127

Test Description

DGS (Diagnostics Genome Sequencing) is a test for…

1. If a rapid genetic diagnosis of a suspected genetic disorder is required, it can be performed as the first test
2. If a mutation is not found in the previous genetic test, it can be performed as a next option
3. The purpose of finding de novo or recessive mutations through Trio genome analysis, including healthy parents and patients
4. Detection of large-scale deletion, duplication, and genomic rearrangement that cause genetic diseases

Ordering information

• Turnaround time: 66 Days
• Specimen: EDTA WB 3ml

Assay information

• Target genes: whole genome including mtDNA
• Platform: NovaSeq 6000
• Bioinformatic Pipeline: in-house bioinformatics pipeline, parliament2 pipeline (CNV calling)
  • Evaluation is focused on coding exons along with flanking +/-20 intronic bases, however, extended to the complete gene region for candidate genes or in search for a second previously described variant in autosomal recessive inheritance pattern. Sequence variants were classified based on the ACMG/AMP guidelines (Richards et al., 2015). Reported results are focused on pathogenic and likely pathogenic variants in genes related to the phenotype of the proband, while variants of uncertain significance are only rarely reported at our discretion. Variants that pass internal QC criteria are not validated by Sanger sequencing.
• Reference Genome: GRCh37/UCSC hg19
• Mean Depth: 30X
• Testing Design: Solo, Duo, Trio [Solo: only the affected index patient is tested; Duo: index patient and affected or an unaffected family member are tested; Trio: index patient and two family members, affected or unaffected are tested]

Result

Limitations

The absence of definitive pathogenic findings does not rule out the diagnosis of a genetic disorder as some genetic abnormalities may be undetectable with this test. It is possible that the genomic region where a disease-causing variant exists in the proband was not captured or sufficiently sequenced with low quality. Additionally, multifactorial disorders and some types of genetic disorders due to nucleotide repeat expansion/contraction, abnormal DNA methylation, and other mechanisms may not be detectable with this test. This test also cannot reliably detect mosaicism, chromosomal aberrations, and deletions/insertions of 20 bp or more. Some genes have inherent sequence properties (for example repeats, homology, high GC content, and rare polymorphisms) that may result in suboptimal data, and variants in those regions may not be reliably identified.

Verifying more specific details about the Test