List of Diseases Covered by DNA Testing

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Genetic diseases are complex, variable penetrance means that although there is an increased risk, not all dogs with the detected mutation will show the clinical signs of the disease. Therefore, as with any genetic information, we recommend ALWAYS using test results to guide your decisions about clinical management and breeding rather than using them as an absolute recommendation for all dogs.

Please contact us to discuss your results or if you need any help with interpretation. Our screening panels covers detection of the following heritable diseases:


CANINE CONDITION

View List of diseases by breed

BLEEDING DISORDERS and IMMUNODEFICIENCIES DISORDERS
Canine Leukocyte Adhesion Deficiency
von Willebrand’s Disease Type I
von Willebrand’s Disease Type II
von Willebrand’s Disease Type III
Factor VII deficiency (C-FVII)
Thrombopathia
Canine Cyclic Neutropenia / Gray Collie Syndrome

METABOLIC DISEASES
Autosomal Hereditary Recessive Nephropathy
Copper Toxicosis
Fucosidosis
Phosphofructokinase Deficiency
Pyruvate Dehydrogenase Deficiency
Mucopolysaccharidosis
Cystinuria
Canine Hyperuricosuria
Pyruvate Dehydrogenase Phosphatase Deficiency

MUSCULAR DISEASES
Muscular Dystrophy X-linked (MDX)
Myotonia Congenita
Myotubular Myopathy X linked
Centronuclear Myopathy

NEUROLOGICAL DISEAESES
Cerebellar Ataxia
GM1 – Gangliosidosis
Polyneuropathy/Neuropathy (NDRG1)
Exercise Induced Collapse
Neuronal Ceroid Lipofuscinosis
L-2- hydroxygluteric Aciduria
Narcolepsy
Globoid Cell Leukodystrophy / Krabbe’s Disease
Neonatal Encephalopathy
Degenerative Myelopathy
Dermoid Sinus (can lead to neurological signs)
Pug encephalitis

CARDIAC DISEAESES
Dilated Cradiomyopathy
Arrythmogenic Right Ventricular Cardiomyopathy

DRUG SENSITIVITY
Multi-Drug Resistance gene - (MDR1) – most commonly used for Ivermectin sensitivity but many other drugs
are included e.g. ACP, Butorphanol, chemotherapy drugs etc)

OPHTHALMOLOGY DISEASES
Porgressive Retinal Atrophies (PRA)
Cone Degeneration
Hereditary Cataract
Congenital Stationary Night Blindness
Primary Lens Luxation (PLL)
Collie Eye Anomaly

FELINE CONDITIONS

METABOLIC DISEASES
Polycystic Kidney Disease
Mucopolysaccharidosis Type VI and VII
Erythrocyte PK Deficiency

CARDIAC DISEASES
Hypertrophic Cardiomyopathy

OPHTHALMIC DISEASES
Progressive Retinal Atrophy

BLOOD DISORDERS
Hemophilia
Erythrocyte PK Deficiency

NEUROLOGICAL DISEASE
GM1 Gangliosis
GM2 Gangliosis
Niemann Pick C-1

EQUINE CONDITION


MUSCULAR DISEASES
Hyperkalemic Periodic Paralysis
Polysaccharide Storage Myopathy

INTESTINAL DISEASES
Lethal White Overo

SKIN DISEASES
Junctional Epidermolysis Bullosa
Hereditary equine regional dermal asthenia - HERDA

NEUROLOGICAL DISEASES
Cerebellar Abiotrophy

METABOLIC DISEASE
Glycogen Branching Enzyme Deficiency

IMMUNOLOGIC DISEASES
Severe Combined Immuno-deficiency - SCID





Results are reported as:

Normal (-/-) – no copies of the mutation was detected.

Carrier (-/+) (1 copy of the mutated gene and 1 copy of a normal gene) Dogs that are carriers (positive heterozygous) should be carefully monitored for signs of disease. If a disease is detected, possible treatment options should be discussed with the owners. Future puppies may be screened for the mutation and over a few generations, mutation negative puppies may be selected to replace the mutation positive parent and gradually decrease the number of mutation positive dogs in the population.

Affected (+/+) (2 copies of the mutated gene), We recommend to actively evaluate and monitor these for signs of the disease. We also recommend not breeding the affected (positive homozygous) dogs UNLESS they are exceptional members of their breed and their positive attributes are essential for the breed. Dogs that are homozygous for the mutation appear to have more significant disease and will certainly pass on the mutation therefore they should only be bred to a negative dog and over 2 generations of negative crosses a negative puppy could be selected as a replacement.

AFFECTED (ONE COPY)This result indicates that one copy of the disease gene is present in the animal yet due to the dominant mode of inheritance of the disease is affected and will show symptoms of the disease. Penetrance can vary or be incomplete due to factors other than genetics such as environment or nutrition. Appropriate treatment should be pursued by consulting a veterinarian.