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X-linked Rare Disease Gene Identification

X-linked rare diseases include Hemophilia B, Duchenne muscular dystrophy (DMD), Rett syndrome (RTT), Fragile X syndrome (FXS), etc. Our company focuses on genomic technologies that have an impact on the understanding of X-linked rare disease traits to help customers reliably and comprehensively elucidate X chromosome inactivation (XCI) patterns in these diseases, providing important information for careful assessment and interpretation of skewed X inactivation, thereby revealing potential therapeutic targets and providing directions and targets for new therapeutics and drugs for rare diseases.

Introduction to X-linked Diseases

Although significant progress has been made over the last decade in uncovering the genes and variants responsible for Mendelian diseases, many disease features have yet to be understood and molecularly characterized from the standpoint of perturbations in biological homeostasis. X-linked diseases pose challenges to current research and understanding, including the differential severity of female and male disease phenotypes and the differential contribution to disease severity of the female X-chromosome inactivation (XCI) skewing.

1-2-1-3 X-linked Rare Disease Gene Identification-1Fig.1 Comparing the effect of the X chromosome variant in females and males. (Migeon, Barbara R., 2020)

The phenomenon of XCI is a major source of variation in the expressivity of X-linked disorders in females, a well-established dosage compensation mechanism ensuring that X chromosome genes are expressed at comparable levels in females and males. However, XCI can be random or imprinted, and XCI skewing is often observed. The inactive X chromosome is not completely silent. Nearly 15% of X-linked genes in humans are thought to escape inactivation and are expressed from active and inactive X chromosomes. Determining which genes escape X inactivation has important implications for explaining the inheritance pattern and/or penetrance of diseases.

Significance of X-linked Rare Disease Gene Identification

  • Explaining skewed X inactivation, and the phenomenon of symptomatic female carriers of X-linked recessive diseases and the differences in penetrance of dominant disorders.
  • Classification of the increasing number of variants of unknown significance (VUS) identified by WGS technology.

Our Services

Our researchers have now developed a variety of methods for X-linked rare disease gene identification to make an important contribution to our customer's understanding of the biological pathways, in which X-linked rare disease-related genes are involved and regulated and the molecular mechanisms of disease pathophysiology, thereby accelerating your rare disease target research and identification.

Gene Panels Development

Establishing gene panels to provide important tools and methods for screening and identifying genes related to X-linked rare disease.

RNA-seq Analysis

Utilizing RNA-seq analysis technology to provide our customers with measurements of all allele-specific expression across the X chromosome.

Genome Sequencing

Providing heterozygous loci identification by sanger sequencing, whole-genome sequencing (WGS), and whole-exome sequencing (WES).

Our Advantages

  • Cutting-edge technology and equipment
  • Professional technical support
  • Stringent quality control and testing
  • Careful design and transparent operation process
  • Innovative and flexible solutions
  • Reliable and trusted partner

Project Workflow

1-2-1-3 X-linked Rare Disease Gene Identification-2

Our company is committed to providing X-linked rare disease identification services to help customers gain insight into the physiopathology of X-linked rare diseases. Our professional, reliable, and flexible solutions are vital to our customers' research in molecular diagnostics and the design of targeted therapies for these diseases. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.


  • Migeon, Barbara R. "X-linked diseases: susceptible females." Genetics in Medicine 22.7 (2020): 1156-1174.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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