Human Genome consists of a DNA molecule containing more than 30.000 genes. With the advance of new Technologies we can detecteven a single base change in DNA sequence. With the new techniques, many of the unknown diseases are now being easily diagnosed . There are a few different approaches to diagnose these changes in DNA.

DNA sequencing is the most reliable technique. This technique consists of PCR amplification of the area of the gene of interest and then these sequneces are flourescently dyed and sequenced by a DNA sequencer. This Technique is used ,in prenatali postnatal diagnosis and also in Cancer Genetics.

Real time PCR is a Technique used to detect fusiıon genes and transcripts ( cDNA) in Cancer Genetics.. It faciliates the diagnosis in a small amounth of material( bome marrow).In diagnosis of Somatic mutations and related cancers( KRAS, JACK2etc), this technique detects even a few cancerous cells in the tissue analysed.