• Test Code: OT001

Test Description

WES analyzes the whole exon and mitochondrial DNA of all genes encoding proteins that account for about 2% of the human genome as nucleotide sequences. If all human genes are analyzed simultaneously using a next-generation sequencing analyzer, it is possible to diagnose about 30-40% of rare diseases.

Ordering information

  • Turnaround time: 34 Days
  • Specimen: EDTA WB 3ml
Specimen requirements
Test Requisition Form

Assay information

  • Target genes: 22,000 genes including mtDNA
  • Target Enrichment Method: MGIEasy Exome Capture V5 (MGI)
  • Platform: DNBSEQ-G400 (MGI) platform [2 × 100 bp PE reads]
  • Bioinformatic Pipeline: in-house bioinformatics pipeline
    • 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. Depending on the results of additional studies in the literature and databases, the classification of the variant may change. Variants that pass internal QC criteria are not validated by Sanger sequencing.
  • Reference Genome: GRCh37/UCSC hg19
  • Mean Depth: 100X
  • 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

The test results will be provided according to the designated TAT. Review the sample report to see how the results are structured.

Sample report

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, 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

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