Screening for Hereditary Diseases by the Josephine Deubler Genetic Disease Testing Laboratory (PennGen) at the University of Pennsylvania
Tufts' Canine and Feline Breeding and Genetics Conference, 2005
A. Huff, A. Seng, P. Wang, L. D. Berman, A. Traas, M.L. Casal, M.B. Callan, E. Tcherneva, P.S. Henthorn, M.E. Haskins, U. Giger
Section of Medical Genetics University of Pennsylvania, Philadelphia, PA

The Josephine Deubler Genetic Disease Testing Laboratory was established by the University of Pennsylvania School of Veterinary Medicine. Together with the Pediatrics and Genetics Clinic, it is part of a service that encompasses genetic screening and counseling for hereditary diseases in companion animals in the School's Section of Medical Genetics. The testing laboratory is named after Dr. Josephine Deubler, the Veterinary School's first woman veterinary graduate and first woman to receive a PhD recipient from the Penn Veterinary School, an AKC judge, and active show chairman of the Bucks County and the Montgomery County Kennel Clubs.

Hereditary diseases of companion animals are an important problem for breeders and owners. More than 500 inherited disorders have been identified in the dog and over 190 in the cat. Over the past two decades the Section of Medical Genetics at the University of Pennsylvania discovered and characterized many hereditary disorders in dogs and cats from the clinical features to the molecular genetic defect. Once the mode of inheritance was determined, hematological, biochemical, and genetic tests were developed to identify affected and carrier animals. The Josephine Deubler Genetic Disease Testing Laboratory was established to offer these genetic tests to veterinarians, breeders, and pet owners to assist them in their effort to breed animals free of hereditary diseases that were known to occur in their breed.

Since most genetic diseases are recessively inherited, tests to identify carriers that are clinically asymptomatic but can pass on the defective (mutant) gene have been developed. Several DNA-based tests, that represent the most accurate screening tests, have been introduced by PennGen and are listed below. Recently established tests in 2005 include coagulation factor VII deficiency in Beagles that causes a mild to moderate bleeding tendency and appears to be prevalent in show and research Beagles (in collaboration with The Children's Hospital of Philadelphia), I-Cell disease in domestic shorthair cats, and cobalamin malabsorption in Australian Shepherds (in collaboration with John Fyfe at MSU).

Inherited metabolic diseases, which include all biochemical disorders caused by genetically determined defects, have gained notable interest. The mission of the Metabolic Screening Laboratory at the University of Pennsylvania is to characterize new diseases in companion animals with signs suspicious for genetic disorders. Genetic metabolic screening includes analyses of amino acids, organic acids, and carbohydrates (glycosaminoglycans and oligosaccharides) of urine and serum samples for various inborn errors of metabolism. These tests can detect a metabolic defect in any breed and thus can be applied to define defects in breeds where a disease has not been previously identified. Some of the typical clinical signs of inborn errors of metabolism include neonatal death, failure to thrive, growth retardation, corneal clouding, chronic vomiting or diarrhea, anorexia, neurological signs, hepatosplenomegaly, skeletal abnormalities and facial dysmorphia. Any animal showing these signs is a candidate for metabolic screening by submission of urine and serum/plasma samples to our laboratory.

The PennGen laboratory is a non-profit operation under the auspices of the School of Veterinary Medicine at the University of Pennsylvania, is supported by National Institutes of Health and donations from individuals and companion animal organizations, with modest service fees. Detailed information on testing and sample submission may be found at www.vet.upenn.edu/penngen.

Molecular Genetic Tests offered by PennGen (www.vet.upenn.edu/penngen for more info)


Hereditary Disease

Canine/ Feline

Breeds (in some cases breed specific mutations)

Test
PennGen

Cystinuria type I

C

Newfoundland, Labrador

DNA

Cobalamin Malabsorption

C

Giant Schnauzer, Australian Shep.

DNA

Factor VII Deficiency

C

Beagle

DNA

α-Fucosidosis

C

English Springer Spaniel

DNA

Glycogenosis (GSD) Type IV

F

Norwegian Forest Cat

DNA

Mucolipidosis II (I-Cell Disease)

F

DSH

DNA

α-Mannosidosis

F

Persian, DSH

DNA

Mucopolysaccharidosis IIIB

C

Schipperke

DNA

Mucopolysaccharidosis VI

C
F

Miniature Pinschers, M. Schnauzer
Siamese, DSH

DNA
DNA

Mucopolysaccharidosis VII

C
F

Mixed Breed, German Shepherd
DSH

DNA

Myotonia Congenita

C

Miniature Schnauzer

DNA

Phosphofructokinase (PFK) Deficiency

C

English Springer and American Cocker Spaniel, Mixed Breeds

DNA

Pyruvate Kinase (PK) Deficiency

C

F

Basenji, Beagle, Eskimo, West Highland White & Cairn Terrier, Dachshund
Abyssinians, Somali, DSH

DNA

X-Linked Severe Combined Immune-deficiency (SCID)

C

Basset Hound, Pembroke Welsh Corgi

DNA

Other tests offered

Cystinuria

C

Any Breed (see also DNA test for Newfoundland and Labrador)

Urine Amino Acid

Fanconi Syndrome

C

Basenji, Norwegian Elkhound, Other Breeds

Urine Amino Acid, Glucose

Hereditary Blood Diseases

C/F

Any Breed

Varied

Methylmalonic Aciduria - Cobalamin malabsorption

C

Giant Schnauzer, Beagle, Shar pei, Border Collie, Other Breeds

Urine Organic Acid

Metabolic Screening for animals with suspected genetic disease

C/F

Any Breed (Detailed Clinical Information Required)

Metabolic Tests Urine & Serum

Mucopolysaccharidosis

C/F

Any Breed (See also mutation tests)

Urine, serum & EDTA blood


Supported by National Institutes of Health, the National MPS Society, Inc., and the Canine Health Foundation

Speaker Information
(click the speaker's name to view other papers and abstracts submitted by this speaker)

A. Huff
Section of Medical Genetics University of Pennsylvania
Philadelphia, PA


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