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Genetic Testing

Inborn Errors of Metabolism and
Constitutional Genetic Disorders


About the Robert Guthrie Biochemical & Molecular Genetics Laboratory at KSL Diagnostics


​Dr. Robert Guthrie introduced the first newborn screening test in the United States for phenylketonuria (PKU), a progressive and fatal disease of young children, in the early 1960s. Dr. Guthrie developed this test while at Buffalo Children’s Hospital in late 1950’s.


By the late 1960s, spearheaded by Dr. Guthrie, the newborn screening for genetic diseases became a part of infant health care in the United States. The lab established in his honor performs testing to detect amino acid disorders as well as other inborn genetic disorders, including constitutional genetics and biochemical genetics.

The main goal of the laboratory is to provide comprehensive diagnostic testing that will facilitate the arrival at a final diagnosis for the patient through coordination with clinical, histochemical and molecular findings.  


KSL Diagnostics is licensed in New York, California, Maryland, Pennsylvania, and Rhode Island.

See specific tests for individual sample requirements.

Constitutional Genetic Testing

Biochemical Testing

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