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Karyotype Analysis Service

Karyotype analysis refers to the pairing and grouping of chromosomes to reveal whether the organism accords with the inherent chromosomal characteristics, so as to determine if the organism has chromosomal abnormalities. Our company provides a wide range of karyotype analysis methods and in-depth solutions to help you quickly grasp genetic information related to rare diseases.

Karyotype Analysis in Rare Disease

Karyotype reflects the chromosomal status of an individual. Karyotype analysis can detect whether there are abnormalities in chromatin length, centromere position, the ratio of long and short arms, and the presence or absence of satellites. Many rare diseases have obvious manifestations of chromosomal structural abnormalities, making it a strategy to determine the cause of diseases from a macroscopic perspective of genetics.

2. Karyotype Analysis Service-1Fig.1 Karyotypes of a female proband with Turner syndrome and her father (Li, C, et al.,2022)
  • Abnormalities in Chromosome Number
    More or less chromosomes can lead to the occurrence of some rare diseases. Individuals with Down syndrome show abnormal mental development and multiple organ malformations due to the presence of an extra chromosome 21. And the deletion or partial deletion of the X chromosome in females leads to Turner syndrome, which manifests abnormal development of reproductive organs
  • Abnormalities in Chromosome Structure
    Chromosomal structural abnormalities include duplication, translocation, inversion, and insertion, etc. Loss of the long arm of chromosome 7 or of the long arm of chromosome 15 causes Williams's syndrome and Prader-Willi Syndrome, respectively, both of which present with intellectual disability. Walker-Warburg syndrome, acute leukemia and muscular dystrophy-dystroglycanopathy, type a, 1 are all related to chromosome 9 inversion. In addition, Potocki-Lupski syndrome is characterized by an additional copy of a small segment of chromosome 17 onto chromosome 11.
  • Microdeletion / Microduplication of Chromosome
    The missing or replication of a small fragment of DNA leads to the microdeletion or microduplication of chromosomes. Typical examples include the 2q23.1 deletion which causes seizures and developmental delays and 15q11–q13 deletion relevant to Angelman syndrome.

Our Services

Karyotype 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.

Cell service scheme

Canonical Karyotyping Service

The cells from individuals with rare diseases or animal models are retrieved to analyze the karyotype by canonical G-band method, or C-, Q-, R-, T-band methods.

Spectral Karyotyping Service

Spectral Karyotyping Service

To overcome the drawbacks of canonical analysis, spectrometry uses different dyes to detect subtle chromatin abnormalities with higher sensitivity and specificity.

Digital Karyotyping Service

Digital Karyotyping Service

Big data based on next-generation sequencing technology is used to analyze genome structure, ploidy number, gene mutation, copy number variation, etc.

Workflow of Canonical and Spectral Karyotyping

2. Karyotype Analysis Service-2

Our Advantages

Comprehensive files for personalized services

Comprehensive files for personalized services

Top-class research platform for global collaboration

Top-class research platform for global collaboration

Involvement of multidisciplinary expertise

Involvement of multidisciplinary expertise

Time- and cost-saving service

Time- and cost-saving service

With the participation of genetic experts possessing rich project experience, our company provides one-stop rare disease karyotype analysis service to help you quickly complete the genetic testing related to rare diseases. If you are interested in our karyotype analysis service, please feel free to contact us for more information.

Reference

  • Li, C, et al. Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome. Front Pediatr. 2022; 10: 799284.

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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