Editing Frameshift mutation (section)

====Diagnosis====

A US [[patent]] (5,958,684) in 1999 by Leeuwen, details the methods and reagents for diagnosis of diseases caused by or associated with a gene having a somatic mutation giving rise to a frameshift mutation. The methods include providing a tissue or fluid sample and conducting gene analysis for frameshift mutation or a protein from this type of mutation. The nucleotide sequence of the suspected gene is provided from published gene sequences or from [[cloning]] and sequencing of the suspect gene. The amino acid sequence encoded by the gene is then predicted.<ref>US Patent [https://patents.google.com/patent/US5958684 5,958,684] (September 28, 1999) "Diagnosis of Neurodegenerative Disease" by Leeuwen ''et al''</ref> NA Sequencing: Sanger sequencing or Next-Generation Sequencing (NGS) can be used to directly sequence the DNA and identify insertions or deletions.Polymerase Chain Reaction (PCR): PCR can be used to amplify the specific region containing the mutation for subsequent analysis.Multiplex Ligation-dependent Probe Amplification (MLPA): MLPA is a technique used to detect copy number variations and small insertions or deletions.Comparative Genomic Hybridization (CGH): CGH is used to detect chromosomal imbalances, which may include large insertions or deletions.