BGI Xome – Targeted Monogenic Disease Testing


Service Description

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

Why Choose Targeted Monogenic Disease Testing?

Targeted sequencing 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 Genomics provides panels organised by 10 different body systems and also a wide range of smaller gene panels selected for specific monogenic diseases. As of 2023, BGI Genomics has tested around 1,580,000 samples for thalassemia, 7,000,000 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.

Option 1: testing for monogenic diseases in 10 different human body systems

Option 2: testing for specific genes and gene panels contact us for more information on the gene panels available.

Suitable for: Intended for use in conjunction with the clinical presentation and other markers of disease progression for the management of patients with rare genetic disorders.

TA Time: 15-35 working days Sample: Peripheral blood, DNA

Technology: Target region capture, high-throughput sequencing


Note: This test does not screen for potential chromosomal or genetic conditions other than those expressly identified. Before making any treatment decisions, all patients should discuss their results with their healthcare provider, who can recommend confirmatory, diagnostic testing where appropriate. This testing service has not been cleared or approved by the US FDA and is not available in the USA.


  • Germline variant detection

  • Somatic variant detection

  • Associating DNA variants with a phenotype, such as a disease

  • Structural variant discovery

  • Copy number variation

Project Workflow

We care for your samples from the start through to the result reporting. Highly experienced laboratory professionals follow strict quality procedures to ensure the integrity of your results.

Search for Genes of Interest

Search for genes of interest and associated mutations, and confirm whether the Xome test is suitable for your requirements.