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Biochemical Technologies and Test Issues 

Biochemical Technologies and Test Issues
Chapter:
Biochemical Technologies and Test Issues
Author(s):

Amy Gaviglio

, Rhona M. Jack

, and Lisa Sniderman King

DOI:
10.1093/med/9780190604929.003.0006
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date: 25 November 2020

The biochemical genetics laboratory has seen rapid technological growth and progress in the past 25 years, which has greatly aided in the detection of inborn errors of metabolism. Result reporting and accuracy are influenced by preanalytic sample handling, sample type, and methodology. Differentiating normal from abnormal is the key to disease diagnosis, and the interpretation of results often depends upon the pattern of analytes and knowledge about the patient’s clinical picture. The biochemical genetics laboratory is a setting that benefits from the addition of genetic counselors on staff. Technologies may evolve, but the role of the laboratory genetic counselor will remain essential.

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