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Please note that we are not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.


Omics Analysis Services

Omics analysis employs big data from high-throughput technologies including genetics information, profiles of transcription and protein, etc. to interpret the physiological and pathological characteristics of organisms. Our company provides a wide range of karyotype analysis methods and in-depth solutions to help you quickly grasp multi-omics information related to rare diseases.

Omics in Rare Disease

Omics in rare diseases allows researchers to gain a comprehensive understanding into the pathogenesis of rare diseases from DNA, RNA and proteins that containing a huge amount of information by the application of various omics technologies, including genomics, epigenomics, transcriptomics, proteomics and metabonomics. The potential therapeutic targets are destined to be identified from the complex molecular networks and pathways.

Omics Analysis Service-1Fig.1 Multi-omics approaches in disease research (Chen, C, et al., 2023)

DNA Abnormalities in Rare Diseases

Numerous disease-causing genes across rare disorders have been identified by genome and epigenome studies. The predominant cause of rare diseases is single gene disorder, while a growing number of the diseases are found to be linked to polygenic mutations. Thus, these abnormalities can be stably inherited, especially within families. Epigenetic abnormalities in DNA may have a broad-spectrum implication. Typically, inactivated mutations in DNMT family affect the genome-wide methylation, leading to the Tatton-Brown-Rahman syndrome (TBRS).

RNA Abnormalities in Rare Diseases

RNA participates in various biological activities of cells under the guidance of DNA genetic information. The rate and quality of RNA synthesis directly affect the expression and function of proteins, thus affecting the state of cells. When RNA is processed to produce abnormally spliceosome, it can lead to the production of dysfunctional proteins. A typical example is the alternative splicings of TDP-43 are implicated in the neuron damages that resulted in amyotrophic lateral sclerosis (ALS).

Protein Abnormalities in Rare Diseases

Proteins are the major molecules in cells that ultimately perform biological functions. With the post translational modifications, the proteins may differences in enzyme activity, structural support, signal transduction, etc. For instance, defective posttranslational activation of all cellular sulfatases ascribed to the absence of formylglycine generating enzyme (FGE) gives rise to the multiple sulfatase deficiency (MSD), which is accompanied by mucopolysaccharidosis and sphingolipid storage symptom.

Our Services

Omics analysis is an essential and fundamental step for the diagnosis of rare diseases. Our company has a mature diagnostics development system that provides you with a high-level research team and the necessary resources to support the karyotype analysis development for rare disease. Our services include but are not limited to:

Genomic Analysis Service

To study and interpret the entire genome, the coding and non-coding sequences of DNA are retrieved to examine the genomic information.

Transcriptomic Analysis Service

To reveal the transcriptome containing all the RNA molecules with vital information about gene expression patterns, regulations and dynamics.

Epigenome Analysis Service

Various epigenetic modifications regulating the expression of genes without altering the inherent DNA are resolved to elucidate the mechanism.

Proteomic Analysis Service

The structure, functions and modifications of a large scale of proteins are displayed to decipher their roles in biological processes

Metabonomic Analysis Service

Exploring all the constituent of products f cellular metabolism provides comprehensive information about metabolic status and features.

Our Advantages

Strict standards for library construction

Strict standards for library construction

Flexible construction methods for distinct library

Flexible construction methods for distinct library

Large number of projects with faithful results

Large number of projects with faithful results

Multi-disciplinary talent cooperation

Multi-disciplinary talent cooperation

Staffed by next-generation sequencing experts and bioinformatics analysis engineers with rich project experience, our company provides one-stop rare disease omics analysis service to help you speed up big data analytics related to rare diseases. If you are interested in our omics analysis service, please feel free to contact us for more information.


  • Chen, C, et al. Applications of multi-omics analysis in human diseases. MedComm (2020). 2023; 4(4): e315.

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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