Genetics

Laboratory Rotation

Genetic Diagnostic Laboratory

The Genetic Diagnostic Laboratory (GDL) is a molecular genetics laboratory at The University of Pennsylvania that provides diagnostic testing for seven genetic disorders. The laboratory was established in 1994 under the directorship of Haig Kazazian, MD, and is currently directed by Arupa Ganguly, PhD.

The GDL trains fellows who participate in the Clinical Molecular Genetics fellowship program run by the American Board of Medical Genetics (ABMG). The training provides the fellows with an opportunity to learn, understand, and obtain hands-on training in the daily proceedings of a high-throughput molecular genetic diagnosis laboratory.

Individuals trained in this laboratory learn the intricacies of directing a high complexity laboratory. Special emphasis for "high complexity" laboratories include:

The laboratory trains fellows in the following aspects of clinical molecular genetics testing:

Genetic testing procedures and volume

Specific genetic testing techniques fellows will learn include: 

The GDL offers testing for 300-400 cases a year and covers all the different aspects of genetic testing listed above. New tests are being developed and the total number of tests performed changes every year.

Goals and objectives

Biochemical Genetics Laboratory

The Biochemical Genetics Laboratory is a full-service clinical laboratory offering a wide range of metabolic tests appropriate for a tertiary care pediatric facility.

These include:

Trainees will be exposed to these methods and the interpretation of laboratory results for a wide range of amino acid, organic acid and fatty acid oxidation defects. A critical new facility is our triple-stage tandem mass spectrometry unit which allows for the mass screening of dozens of different inherited metabolic disorders. This technology has become the mainstay of virtually all state newborn screening programs.

Goals and objectives

Trainees will learn the basics of:

Fellows learn to appreciate the limitations of these tests, what is significant, and how to interpret the results. Oftentimes, fellows are required to convey the significance of metabolic test results to outside physicians who are usually non-specialists in this field.

Fellows should be able to convey the following to other healthcare professionals:

In addition, the laboratory offers a specialist expertise in the diagnosis of lysosomal, galactosemia and fatty acid oxidation enzyme defects for which diseases the laboratory has a National and International reputation. The trainees will have an opportunity to learn these techniques, which include spectrophotometric, fluorescent, and radioisotopic enzyme assays and metabolic flux measurement using isotopic tracers.

Molecular Biology Lab

Directed by Catherine Stolle, PhD, the Molecular Biology Lab rotation helps clinical genetics fellows:

Toward this end, fellows must spend a minimum of two continuous weeks in the laboratory. The lab experience must include participation in the working conferences of the lab as well as discussions of lab data.

Proposed participation in lab activities

In conjunction with the director, the fellow will select from the following list those activities most suited to achieve the purposes described above.

Potential topics for didactic session(s)

Didactic sessions will be arranged at the request of the fellow and at the mutual convenience of the director and fellow. Didactic sessions are intended to enrich the fellow’s appreciation of topics or issues arising during participation in lab activities.

Ethical considerations

Documentation of participation

At the end of the two-week period, the director will provide written documentation the fellow’s participation.

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