Molecular Diagnosis-Non Infectious Diseases

Mutations are changes in a genomic sequence. These can either have no effect, alter the product of gene, or prevent the gene from functioning properly or completely. Mutations are classified as point mutations or SNP, duplication, deletions, insertions etc. Not all mutations may result in a disease condition. Some of the deletion/ duplication mutations that are associated with diseases can be diagnosed using molecular techniques such as PCR, sequencing, MLPA etc.