Inborn Errors of Metabolism
Includes PKU and MSUD
About the Biochemical & Molecular Genetics Laboratory at KSL Diagnostics
The Biochemical & Molecular Genetics Laboratory performs diagnostic testing for inborn errors of metabolism.
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, including phenylketonuria (PKU) and maple syrup urine disease (MSUD).
The laboratory is located at KSL Diagnostics at 1000 Youngs Road, Williamsville, NY 14221. KSL Diagnostics maintains a high standard of quality through our CAP and CLIA certified facility, holding licenses from the states of New York, Pennsylvania, California, Rhode Island, and Maryland. Our lab holds a certificate of accreditation from the Centers for Medicare and Medicaid Services under CLIA (CLIA: 33D2043745), and is accredited by the College of American Pathologists. Our NPI is 1265853519.
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.
The Biochemical & Molecular Genetics Laboratory at KSL Diagnostics currently offers the following tests: