ExomeDx

Whole exome sequencing (WES) targets and sequences all protein-coding regions (exons) of the genome, covering about 1–2% of total DNA. This method utilizes next-generation sequencing (NGS) to detect genetic variants, including single nucleotide variants (SNVs) and small insertions or deletions. WES is commonly used in clinical diagnostics and research to identify genetic causes of diseases. 

 Clinical exome sequencing (CES) is a targeted sequencing approach that analyzes the exons of genes associated with specific diseases. Using next-generation sequencing (NGS), CES identifies genetic variants linked to hereditary conditions and other health issues. By focusing on clinically relevant regions, CES aids in accurate diagnosis, informs treatment decisions, and supports genetic counseling for patients and families. 

Non-Invasive Prenatal Testing (NIPT)
Non-Invasive Prenatal Testing (NIPT) is a highly accurate and safe screening method used during pregnancy to assess the risk of certain genetic conditions in the developing baby. By analyzing small fragments of fetal DNA circulating in the mother’s blood, NIPT can detect common chromosomal abnormalities such as:

• Trisomy 21 (Down syndrome) 
• Trisomy 18 (Edwards syndrome) 
• Trisomy 13 (Patau syndrome) 
• Sex chromosome aneuploidies (e.g., Turner syndrome, Klinefelter syndrome)

 Human Leukocyte Antigen (HLA) typing is a molecular test used to identify the specific variations in HLA genes, which play a critical role in the immune system's ability to recognize foreign substances. Accurate HLA typing is essential for organ and bone marrow transplantation compatibility, autoimmune disease risk assessment, and certain pharmacogenomic applications. Our high-resolution HLA typing services ensure reliable and detailed results using advanced next-generation sequencing (NGS) technology.