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Josephine Deubler Genetic Disease Testing Laboratory
DNA Tests:
Cystinuria
Factor VII Deficiency - Beagle
Factor VII Deficiency - Alaskan Klee Kai
Factor VII Deficiency - Scottish Deerhound
Factor XI Deficiency - Kerry Blue Terrier
Fucosidosis
Glycogenosis Type IV (GSD)
Karyotyping for Chromosomal Disorders
(Cytogenetics Lab)
Mannosidosis
Mucopolysaccharidosis (MPS) IIIB
Mucopolysaccharidosis (MPS) VI, VII and Other Types
Myotonia Congenita
Phosphofructokinase Deficiency (PFK)
Pyruvate Kinase Deficiency (PK)
Severe Combined Immunodeficiency (SCID)
Table of All Test
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. Thereby,
the mode of inheritance was determined and hematological, biochemical and genetic
tests were developed to identify affected and carrier animals. The Genetic Disease
Testing Laboratory, dedicated to Dr. Josephine Deubler was established to offer
these genetics 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. We have already performed over 1500 DNA screening tests.
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