BGI NOVA Newborn Metabolic Disease Screening

BGI NOVA™ Metabolic Disorders Screening, a comprehensive test for inherited metabolic disorders (IMDs), which utilizes tandem mass technology and fluoroimmunoassay to allow inexpensive screening for 51 different metabolic disorders.
Many of these potentially fatal metabolic disorders are amenable to effective treatment upon timely diagnosis.  Early detection and intervention can allow better clinical outcomes for the newborn, improving the quality of life for both them and their family.

Technology:     Tandem Mass Spectrometry & Next Generation Sequencing.  Fluoroimmunoassay

Sample Type:          Blood spots (heel)
Suitable For:           Any new born suspected of metabolic abnormality & fed more than 6 times before blood draw
Lab Certification:  CAP
TAT:                          Shipped within one week in 2-8℃

BGI Xome Congenica Express (with clinical report)

BGI Whole Exome Sequencing services are executed with the Illumina sequencing system, or exclusively with DNBseq sequencing technology, for great sequencing data at the lowest cost in the industry. DNBseq is a high-throughput sequencing platform developed by a subsidiary of BGI, Complete Genomics, in Silicon Valley. This system is powered by combinatorial Probe-Anchor Synthesis (cPAS), linear isothermal Rolling-Circle Replication and DNA Nanoballs (DNBTM) technology, followed by high-resolution digital imaging.

Applications

  • Germline variant detection
  • Somatic variant detection
  • Associating DNA variants with a phenotype, such as a disease
  • Structural variant discovery
  • Copy number variation
  • Discovering biomarkers and therapeutic targets

BGI XOME CONGENICA EXPRESS (with clinical report)
Lab:   BGI Laboratory (DENMARK – Copenhagen) / Lab Certification:  Congenica – Denmark Accreditation for Medical Examination
TAT:  40 working days (from sample arrival at lab)

BGI Xome Express (without clinical report)

BGI Whole Exome Sequencing services are executed with the Illumina sequencing system, or exclusively with DNBseq sequencing technology, for great sequencing data at the lowest cost in the industry. DNBseq is a high-throughput sequencing platform developed by a subsidiary of BGI, Complete Genomics, in Silicon Valley. This system is powered by combinatorial Probe-Anchor Synthesis (cPAS), linear isothermal Rolling-Circle Replication and DNA Nanoballs (DNBTM) technology, followed by high-resolution digital imaging.

Applications

  • Germline variant detection
  • Somatic variant detection
  • Associating DNA variants with a phenotype, such as a disease
  • Structural variant discovery
  • Copy number variation
  • Discovering biomarkers and therapeutic targets

BGI XOME EXPRESS (without clinical report)
Lab:   BGI Laboratory (Hong Kong) / Lab Certification:  CAP
TAT:  15 working days (from sample arrival at lab)