Rare Genetic Disorders
Unlock the genetic secrets of rare diseases with our comprehensive genetic testing services. Rare genetic disorders affect millions of people worldwide, and identifying the underlying genetic cause is crucial for diagnosis, treatment, and management. Our expert team employs cutting-edge Next-Generation Sequencing (NGS) technologies and advanced bioinformatics tools to provide accurate and reliable genetic testing results.
Our Offerings:
1Mendelian Disorders
→Identify genetic variants associated with single-gene disorders, such as cystic fibrosis, sickle cell anemia, and muscular dystrophy.
2Complex Genetic Disorders
→Analyze genetic variants associated with complex diseases, such as autism spectrum disorder, epilepsy, and intellectual disability.
3Genetic Panel Testing
→Choose from pre-designed panels or create custom panels to test for specific genetic disorders.
4Whole Exome Sequencing (WES)
→Analyze the protein-coding regions of the genome to identify genetic variants associated with rare diseases.
5Whole Genome Sequencing (WGS)
→Analyze the entire genome to identify genetic variants associated with rare diseases.
6Mitochondrial Genome Analysis
→Identify genetic variants associated with mitochondrial disorders, such as mitochondrial myopathies and neurodegenerative diseases.
7Copy Number Variation (CNV) Analysis
→Identify changes in gene copy number associated with rare genetic disorders.
Benefits of Our Rare Genetic Disorders Services:
- Rapid and accurate diagnosis of infectious diseases
- Comprehensive understanding of pathogen genetics and antimicrobial resistance
- Informative results for guiding treatment and infection control strategies
- Expert bioinformatics analysis and support
- Customized solutions for specific research questions and applications