- Test Code: ON003
Test Description
DES analyzes around 6,000 clinically important genes related to Mendelian disorders based on the latest research data. This test can be the help of treatment decisions and patient prognosis by quick diagnosis.
Ordering information
- Turnaround time: 21 Days
- Specimen: EDTA WB 3ml
Assay information
- Target genes: 5,870 genes including mtDNA
- Target Enrichment Method: Celemics G-Mendeliome DES Panel
- 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: 120X
- 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.
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
