Dog

This profile includes the essential tests to be performed in the Whippet: drug sensitivity (DOG-MDR1) and phosphofructokinase deficiency (DOG-PFKM).

Multidrug Resistance 1 is a genetic mutation in a protein that transports drugs out of the brain. This mutation causes sensitivity to certain drugs, including ivermectin and loperamide. Because of this lack of drug clearance from the brain, affected dogs experience neurological symptoms such as ataxia or even death. MDR1 can be tested for in any breed, but is most commonly found in the breeds listed below.

Neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases that affect the central nervous system, leading to early neuronal death and progressive neurodegeneration. NCL2 specifically affects dachshunds, with symptoms including vision loss, tremors, and coordination problems starting at a young age. Unfortunately, there is no known cure for NCL2, and affected dogs typically do not survive past 12 months of age.

Spinocerebellar ataxia (SCA or SAMS) is a genetic disease of the nervous system. Affected dogs present the first signs of ataxia around the age of 3 to 6 months. The symptoms of this pathology are a loss of balance, a progressive lack of coordination until the total loss of mobility. Another test for late-onset spinocerebellar ataxia is available. For more information, consult the DOG-LOA test.

Lethal acrodermatitis is a genetic disease of the immune system. The clinical signs are skin lesions on the paws and muzzle, leading to secondary infections. In addition, the lesions cause hyperkeratosis of the pads and deformation of the nails. Affected puppies also suffer from diarrhea, bronchopneumonia and retarded growth. The first symptoms appear quickly after birth. Affected puppies usually die before 2 years of age or are euthanized.

Familial nephropathy (FN) is a genetic disease affecting the kidneys. Dogs with this disorder develop progressive kidney failure leading to death. The first symptoms usually appear between 6 months and 2 years of age and include excessive water consumption, weight loss, decreased appetite, diarrhea and vomiting.

Alaskan Malamute Polyneuropathy (AMPN) is a genetic neuromuscular disorder. Symptoms may include exercise intolerance, muscle atrophy mainly in the hind legs, laryngeal paralysis resulting in a change in barking and noisy breathing. The first signs of the disease appear between the ages of 3 and 19 months.

Osteogenesis imperfecta, also known as brittle bone disease, is characterised by extreme fragility of bones and teeth caused by an abnormal collagen structure.

Leukoencephalomyelopathy (LEMP) is a neurodegenerative disease characterised by a progressive loss of mobility and coordination of the limbs. The first symptoms usually appear between 1 and 3 years of age.

X-linked hypohidrotic ectodermal dysplasia is a disease characterised by missing or malformed teeth and absent sweat glands. The disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.