Mutation testing is essential for identifying specific genetic changes that cause a wide range of inherited disorders. These tests focus on detecting alterations in a single gene, which can lead to conditions like cystic fibrosis, sickle cell anemia, or Duchenne muscular dystrophy.
Conditions Diagnosed:
- Cystic Fibrosis: Caused by mutations in the CFTR gene, leading to respiratory and digestive issues.
- Sickle Cell Anemia: Results from a single mutation in the HBB gene, affecting red blood cells.
- Duchenne Muscular Dystrophy: Involves mutations in the DMD gene, leading to progressive muscle weakness.
At GENETIKS, we use a range of techniques to identify mutations, selected based on the specific nature of the genetic alteration:
- Sanger Sequencing: The gold standard for identifying specific gene mutations, especially when a particular mutation is suspected.
- Next-Generation Sequencing (NGS): Allows for the analysis of multiple genes simultaneously, useful for conditions with genetic heterogeneity.
- Multiplex Ligation-dependent Probe Amplification (MLPA): Detects larger deletions or duplications within genes, such as those causing Duchenne muscular dystrophy.