Next generation sequencing service

Asper Biotech offers a wide range of next generation sequencing services based on Illumina MiSeq and HiSeq 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:

  • 17 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:

Exome sequencing

An effective option to sequence the coding region of the genome 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. Be sure to fill in submission form with patient’s clinical information in order to improve interpretation of exome sequencing results.

Trio exome 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.