Directed by Arupa Ganguly, PhD, the Genetic Diagnostic Laboratory (GDL) is a molecular genetics laboratory offering diagnostic testing for seven disorders to genetics professionals within The University of Pennsylvania and across the country. This laboratory was established in1994 under the directorship of Dr. Haig Kazazian, MD.
This laboratory has trained fellows who participate in the ABMG Clinical Molecular Genetics fellowship program. 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. In particular 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:
The specific genetic testing techniques that the fellows obtain hands on experience with in the laboratory include:
The GDL offers testing for at least 300 to 400 cases that cover all the different aspects of genetic testing listed above. New tests are being developed and the total number of tests performed changes every year.
Directed by Michael Bennett, PhD, 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 metabolite measurements for plasma, urine and cerebrospinal fluid amino acids using ion exchange chromatography, urine organic acids using gas chromatography/ mass spectrometry, and total and free carnitine levels and quantitative acylcarnitine profiles using electrospray tandem mass spectrometry.
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.
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 to other professionals the nature of the patients' inborn error, the gene involved and its chromosomal location, if known, the treatment and, if possible, the analytes to follow to assure adequacy of therapy, and prognosis.
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.
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.
In conjunction with the director, the fellow will select from the following list those activities most suited to achieve the purposes described above.
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.
At the end of the two-week period, the director will provide written documentation the fellow’s participation.