Molecular Genetics Laboratory

CHOP in the News

Clinical Lab Products quotes Avni Santani, PhD, Scientific Director, Molecular Genetics Laboratory, in a story about next-gen sequencing. Read the story »

Laboratory Update

Testing for the Noonan spectrum of disorders is now available at the Molecular Genetics Laboratory. Learn more about Noonan spectrum testing »

Department of Pathology and Laboratory Medicine

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Overview

The Molecular Genetics Laboratory at the Children’s Hospital of Philadelphia specializes in providing DNA-based diagnostic testing for genetic disorders affecting children and adults in the United States and around the world. We offer a broad test menu, with analysis of over 40 different genes for more than 30 genetic disorders, including craniosynostosis syndromes, neurogenetic/ developmental disorders, globin genes and clotting disorders, and cancer predisposition syndromes.

With a focus on new test development and the implementation of improved test methodologies, we aim to offer the most comprehensive testing available for each disorder. The Molecular Genetics Laboratory has been among the first to offer clinical diagnostic analysis of some genes (ALK, FOXL2, FH, MID1, VHL) and is a recognized leader in the analysis of von Hippel-Lindau disease. Please see our complete test menu and information regarding testing or contact us with any questions.

Location and Hours

Abramson Research Center, Room 714G
3615 Civic Center Boulevard

Hours of Operation
Monday – Friday, 8 a.m. - 4:30 p.m.

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Galactosemia Quantitation

Determination of galactose-1-phosphate uridyltransferase (Gal-1-PUT) activity by tandem mass spectrometry is now available at the Palmieri Metabolic Disease Laboratory.