Phenylketonuria. A blood sample was sent to your Molecular Laboratory for analysis and you received the case sample. How would you process the sample?
1) Give a summary about this disease; mode of inheritance, symptoms; and pathogenesis .
2) Mention some mutations that cause this disease.
3) What type of molecular technology would you run to identify the mutation causing this disease in this patient?
4) What type of genetic molecule do you need to extract from the blood to run this technique?
5) Why did you select this molecular technology to analyze the sample of this case?