The mission of the Section of Medical Genetics Metabolic Screening Laboratory is to diagnose, prevent and—where possible—provide treatment options for genetic diseases with a metabolic basis. Metabolic screening involves an analysis of urine and serum amino acids, organic acids and carbohydrates (including glycosaminoglycans and oligosaccharides) for patterns that may indicate a variety of possible inborn errors of metabolism. Please see our pamphlet and the PennGen Web site for further details about the testing offered through the metabolic screening lab.
Some sex developmental and other disorders may be caused by chromosomal abnormalities . Such derangements can be recognized by obtaining a karyotype from an animal. Inconsistencies in the number or arrangement of X and Y chromosomes can indicate a sex developmental disorder. Autosomal chromosomal abnormalities may be responsible for other developmental defect.
The Cytogentics Laboratory offers karyotyping on a case-by-case basis.
8mLs of anticoagulated (sodium heparinized) blood or fibroblasts are needed for karyotyping.
1mL of EDTA whole blood is needed for Sry Testing.
The Cytogentics Laboratory is required to charge supplemental fees to offset the cost of testing. As of January 2008 the fees are as follows:
- Chromosomal analysis (karotyping) - $300
- SRY (DNA testing) - $125
- Tissue culture - $250
Please contact Dr. Casal (215-898-8894) or Ulana Prociuk (215-573-7545) to discuss the details of a case and to arrange for appropriate sample submission before sending samples for these tests.
Hematology and Transfusion Laboratory
The Transfusion Medicine Laboratory performs a wide variety of hematological testing in association with the Penn Animal Blood Bank, the Matthew J. Ryan Veterinary Hospital and veterinarians around the world.
The laboratory is involved in extensive research in the fields ofimmunohematology and hemolytic anemias. In addition, we are available forconsultation in small animal hematological and transfusion medicine cases.
Routine tests offered include:
- Canine blood typing (DEA 1.1),
- Feline blood typing (AB system and Mik typing),
- Coombs testing (cats and dogs) and
- Crossmatching (cats and dogs).
Following consultation, on a per-case basis, we are also able to offer the following:
- Osmotic fragility studies,
- Platelet studies,
- Coagulation studies,
- Hemoglobin studies,
- Erythrocytic enzyme studies and
- Leukocyte and immunodeficiency studies.
Please call 215.573.6376 or see the PennGen Web site for further information, specific shipping instructions and current pricing.
Medical Genetics Research Laboratories
The Medical Genetics Research Laboratories provide communal workspace for all members of the section to utilize for their research purposes. The laboratory's faculty all have research projects currently running in this lab space.