Mutation Analysis

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.

"The discovery of the structure of DNA transformed not only biology but also our understanding of what it means to be human."

Francis Crick