BGI Xome - Clinical Exome Sequencing

BGI Xome Clinical Whole Exome Sequencing

BGI Xome Clinical Whole Exome Sequencing examines the DNA sequence of over 180,000 exons across 22,000 genes, screening for more than 4000 monogenic diseases.

BGI Xome Clinical Whole Exome Sequencing accurately provides a straightforward and cost effective approach for identifying the genetic variants responsible for a wide range of genetic disorders, thereby assisting clinical diagnosis. Many genetic disorders are amenable to effective treatment upon timely diagnosis. Early detection and intervention can lead to more favorable clinical outcomes.

   SNV /Indel
   Exon CNV
   Chromosome level CNV
   Mitochondrial genome
   Loss of heterozygosity
   Dynamic mutation

   Peripheral blood (>5 mL)
   Genomic DNA (>3μg (30ng/μL))

BGI Xome - Targeted Monogenic Disease Testing

BGI Xome – Targeted Monogenic Disease Testing offers a wide range of gene panels covering more than 2000 genes and 1500 monogenic diseases.

BGI Xome – Targeted Monogenic Disease Testing allows the researcher to focus on one or more specific regions and to sequence that target with a high level of coverage without generating significant quantities of off-target data. This increases the chance of finding biologically relevant variants. BGI provides panels organised by 10 different body systems and also a wide range of smaller gene panels selected for specific monogenic diseases. As of 2018, BGI has tested around 10,000 samples for thalassemia, 1,100,000 samples for hearing loss, as well as a large volume of samples for Hereditary Muscular Disease, Cystic Fibrosis, Neurofibromatosis, Hypertrophic Cardiomyopathy, Inherited Metabolic disorders, Retinitis Pigmentosa, Polycystic Kidney Disease and Marfan Syndrome.

Over 400 kinds of diseases in 10 human body system and over 1600 specific diseases in panel of 1445 project.

System Products
Neuromuscular system Skeletal neuromuscular genetic disease, heredopathia of nervous, system (older), dysgnosia autism spectrum disorder, inherited oculopathy
Skeletal system Skeletal neuromuscular genetic inherited osteopathy
Respiratory system Respiratory diseases (1445 genetic testing)
Digestive system Monogenic diseases in digestive system
Endocrine system Inherited metabolic diseases, diabetes (monogenic), sexual development disorders
Urinary system Inherited nephritis
Immune system Monogenic diseases in immune system
Circulatory system Hematopathy, inherited arrhythmias, angiocardiopathy (in research)
Skin Monogenic diseases on skin
Multi-system and other Mitochondrial diseases (1445 genetic testing)
Sample Type Sample Volume / Concentration
Peripheral blood > 5 mL
DNA ≥ 3 µg; 30 ng/μL
Saliva 2 mL