The Metabolic Genetic Screening Laboratory

Tests Available:
Metabolic Screening (includes Lysosomal Storage Disease Testing)
Cystinuria
Fanconi Syndrome (Canine)
Methylmalonic Aciduria (Canine)
Mucopolysaccharidosis

The Metabolic Genetic Screening Laboratory tests for suspected novel hereditary disease in animals. Most samples are tested free of charge, provided complete clinical information is submitted with the samples. More information can be obtained by calling (215) 573-7545 or (215) 898-8894.

Canine Genetic Disease Information System

Advances in veterinary medicine have lead to a reduction in the frequency of many canine diseases that were common 30-40 years ago. Prevention and control of infectious and parasitic diseases, as well as an increase in knowledge about genetics, has greatly changed the focus of veterinary medicine in the past decade. Many of the serious health problems being diagnosed in dogs today have a genetic basis, and many more genetic diseases remain to be discovered and described.

Although published information has proliferated in the area of canine genetics, there has been no single comprehensive source of information accessible to practicing veterinarians, breeders, and researchers. To address this need, the Canine Genetic Disease Information System (CGDIS) has been developed by the University of Pennsylvania, based on the published literature and over 20 years of experience in a veterinary genetics clinic. The CGDIS is composed of data on dog genetic diseases as well as a software program for accessing and displaying the information. This microcomputer-based program describes over 300 canine genetic diseases. At present, 189 dog breeds are represented. The diseases profiled in the database encompass a variety of congenital malformations, abnormalities in growth and development, endocrine and reproductive disorders, degenerative diseases, metabolic diseases, behavioral traits, susceptibility to particular types of cancer, and inherited deficiencies of the immune system which may predispose dogs to infectious disease.

The CGDIS was designed to provide up-to-date information to veterinarians, breeders, and researchers. The database is organized into sections with summaries suitable for the layperson as well as detailed information for those with veterinary medical or genetic expertise.

The primary advantages of having a computer-based system are the ability to search the database in a variety of different ways and capability of adding new information as it becomes available. Some of the most common ways to use the system will be 1) asking for a list of diseases known to affect a particular breed; 2) searching for a list of known genetic diseases with one or more specified clinical signs; 3) looking for a list of genetic diseases affecting a particular body system; 4) searching for all current knowledge about a particular genetic disease; 5) given a particular genetic disease in the dog, determining the map location of the homologous gene locus in humans; and 6) searching for references to any disease by author, title, journal or year. The fields of information can be combined in a search; for example, one could ask for a list of genetic diseases of the immune system known to occur in Basset Hounds. New information on canine genetics will be provided periodically, and the software will be upgraded as advances in computer technology allow more sophisticated forms of presentation. The first version of the CGDIS is nearing completion and it will be licensed and marketed commercially.