Human Genome

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The page below is a sample from the LabCE course Fundamentals of Molecular Diagnostics. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online.

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Human Genome

Much research has been conducted to identify the alphabet of the human cellular language otherwise known as the human genome. Strictly defined, the human genome is the complete set of nucleic acid sequences for humans encoded as DNA within the 23 chromosome pairs. This identification or roadmap of the human genetic material has opened the door to the mainstreaming of molecular diagnostics within the clinical laboratory setting.
While the mapping of the human genome project is complete, it is often unnecessary to identify the entire sequence; rather, we can use the specific portion of the code that is unique to the disease or condition in question.
These short portions of the genetic molecular sequence or oligonucleotides can then be used as probes to seek out and detect the presence or amplify the target sequence. Oligonucleotides have a wide range of applications in genetic testing, research, and forensics.