Prader-Willi syndrome (PWS) is a rare genetic disorder. With a team of researchers and scientists well versed in PWS, our company is dedicated to developing advanced IVD products for PWS. We also provide point-of-care testing and companion diagnostic development services to facilitate rapid diagnosis and personalized therapeutics of PWS.
Introduction to Prader-Willi Syndrome
Prader-Willi syndrome (PWS) stands out as a complex genetic disorder, impacting various aspects of an individual's health and development. This rare condition manifests early in life, presenting challenges in metabolism, behavior, and physical characteristics. Individuals with PWS often face difficulties related to insatiable hunger, obesity risks, cognitive delays, and unique facial features. The disease affects approximately 1 in 10,000 to 30,000 people worldwide. The condition's rarity, coupled with its diverse symptomatology, necessitates specialized diagnostic tools for accurate identification and management.
Fig. 1 Mechanisms involved in the development of obesity in Prader–Willi syndrome (PWS). (Muscogiuri G, et al., 2021)
Pathogenesis of Prader-Willi Syndrome
The pathogenesis of Prader-Willi syndrome (PWS) is rooted in genetic anomalies, particularly on chromosome 15. Loss of function of genes such as SNURF-SNRPN, MAGEL2 and NDN on this chromosome leads to the complex phenotype of PWS.
Various genetic mechanisms, including chromosomal deletions, maternal uniparental disomy, and translocations, can result in the onset of this syndrome. These alterations interfere with the production of crucial nucleolar RNAs, impacting the regulation of RNA molecules essential for cellular functions.
Genetic Testing for Prader-Willi Syndrome
Genetic testing for Prader-Willi syndrome (PWS) serves as a definitive method to confirm the diagnosis and identify the underlying genetic abnormalities responsible for the condition. Given the complexity of PWS and the variability in clinical presentation, genetic testing offers a precise and reliable approach to differentiate PWS from other genetic disorders with similar features. Genetic testing for PWS usually involves multiple methods.
| Detection Methods |
Description |
| Methylation Analysis |
Methylation analysis is a key diagnostic test for PWS, focusing on the methylation status of specific regions on chromosome 15. |
| Chromosomal Microarray Analysis (CMA) |
CMA is a high-resolution genetic test that can detect chromosomal deletions or duplications, including the microdeletions on chromosome 15 commonly associated with PWS. |
| Fluorescence In Situ Hybridization (FISH) |
FISH can be employed to identify chromosomal abnormalities, such as deletions involving the critical PWS region on chromosome 15. |
| Next-Generation Sequencing (NGS) |
NGS technologies enable comprehensive genomic analysis, allowing for the detection of sequence variations, including point mutations and small insertions or deletions that may contribute to PWS. |
Our Services
At our company, we specialize in the development of IVD solutions tailored for Prader-Willi syndrome (PWS). Our unwavering commitment is directed towards the creation of cutting-edge gene detection kits designed to pinpoint mutations within the key genes associated with PWS. Through the innovation of complementary diagnostic devices, we aim to facilitate automated diagnosis and effective management of PWS.
IVD Product Development Services
Optional IVD Products
- DNA Methylation Detection Kit
- Chromosomal Microarray Analysis Kit
- Fluorescence In Situ Hybridization Detection Kit
- DNA Sequencing Kit
- Primers and Probes
- DNA Extraction and PCR Reagents
- Nucleic Acid Extractor
- PCR Instrument
- DNA Sequencer
- And More
Our point-of-care testing development service is dedicated to creating fast and user-friendly diagnostic tests for PWS, which help in making quick decisions and undertaking therapeutic interventions. Our companion diagnostic development service aims to guide therapeutic decisions based on individual characteristics, enabling personalized therapy.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Muscogiuri G, Barrea L, Faggiano F, et al. Obesity in Prader–Willi syndrome: Physiopathological mechanisms, nutritional and pharmacological approaches[J]. Journal of endocrinological investigation, 2021, 44(10): 2057-2070.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
