Next generation sequencing service

Asper Biotech offers a wide range of next generation sequencing services based on Illumina NextSeq HiSeq, and MiSeq technological platforms. High quality standards, optimized workflow, medical competence and range of bioinformatics experts ensure comprehensive solution for both clinical and research use.

Highlights of the Asper Biotech next generation sequencing service:

  • 18 years of laboratory service experience
  • DNA screening for both clinical diagnostics and research purposes
  • clinical laboratory level quality control systems (CLIA certificate)
  • multiple technological platforms to verify the next generation sequencing findings
  • backup instrumentation to ensure uninterrupted service
  • medical geneticists

 

Asper Biotech offers following next generation sequencing services:

Whole exome sequencing

Whole exome sequencing (WES) includes the sequencing of the protein coding regions and their flanking intronic regions in ~20,000 genes of the human genome. The coding region represents 1-2% of the human genome but contains approximately 85% of disease-causing mutations.

WES is an effective option to detect rare causal variants of Mendelian disorders. Service can be useful for clinicians to diagnose affected patients with conditions that have eluded traditional diagnostic approaches.

WES is performed on the HiSeq sequencer, Illumina Inc with the following characteristics: 70-100x average coverage (~95% targeted bases covered >10X), target region size 37 Mb, 214,405 target exons.

Whole genome sequencing

Whole genome sequencing (WGS) determines the complete DNA sequence of an individual’s genome, including chromosomal DNA and mitochondrial DNA.

Whole genome sequencing covers sequencing of the entire coding and non-coding regions of the genome. Coding regions account for approximately 1,5% of the human genome. Whole genome sequencing enables detection of non-coding sequence variants that could be informative in diagnosing genetically and phenotypically heterogeneous or undiagnosed diseases. WGS can reveal the full range of variations, including single nucleotide variations, copy number variations, changes in transposable elements, and structural variations.

Genome sequencing is performed on the HiSeq 4000 sequencer, Illumina Inc with a mean coverage of 30x (~98% of the genome is covered at >10X).

Trio exome or  genome sequencing of family members, usually affected child with parents is highly recommended for faster and more precise identifying of disease-causing mutation and determining the pattern of inheritance. In addition to patient’s phenotype/disease associated variants, incidental findings are reported according to ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Gene panels sequening

Coding regions of selected genes  are sequenced to screen for genetic variations. Gene panels focusing on diagnostics of different genetic conditions are easily adjustable to cater to our customers’ needs. Do not hesitate to ask for solutions to redesign the existing gene panels to suit your clinical practice or research project.

Targeted regions sequencing

Targeted regions sequencing includes analysis of selected hotspot regions in disease associated genes. Further information about the targeted regions is available on request.