Search results for: 'DOG-PRA-PRCD'
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Dystrophic epidermolysis bullosa (COL7A1: c.5716G>A)
Test code: DOG-DEBDystrophic epidermolysis bullosa is caused by an abnormality in collagen synthesis and is characterised by the presence of blisters at the dermal-epidermal junction leading to epidermal detachment. Affected puppies show skin lesions and ulcers.€49.85 -
Imerslund-Grasbeck syndrome (CUBN: c.8392delC)
Test code: DOG-IGSBImerslund-Gräsbeck syndrome is characterised by malabsorption of vitamin B12 (cobalamin). The first symptoms appear around 6 to 12 weeks. The clinical signs are due to the lack of cobalamin which causes megaloblastic anaemia and neurological symptoms.€49.85 -
Von Willebrand disease type 2 (VWF: c.4937A>G)
Test code: DOG-VWD2Von Willebrand disease is a condition that causes excessive bleeding due to a lack or reduced level of von Willebrand factor (vWF), a blood clotting protein.€49.85 -
Osteogenesis imperfecta (SERPINH1: c.977T>C)
Test code: DOG-OSTEO-TOsteogenesis imperfecta, also known as brittle bone disease, is characterised by extreme fragility of bones and teeth caused by an abnormal collagen structure.€49.85 -
Primary hyperoxaluria (AGXT: c.304G>A)
Test code: DOG-OXAPrimary hyperoxaluria is characterized by the formation of oxalate crystals mainly in the kidneys causing kidney stones, severe renal failure and abdominal pain. The first symptoms appear around 3 to 4 weeks of age. Affected puppies are usually euthanized.
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Spinal Dysraphism (NKX2-8: c.449delinsTT)
Test code: DOG-SDSpinal dysraphism is a genetic disease with symptoms present from birth. Affected puppies show neurological abnormalities including motor disorders in the hind legs. Adults show a typical abnormal gait with simultaneous movement of the hind legs or "bunny hop".
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Myotonia congenita (CLCN1: c.803C>T)
Test code: DOG-MC-SCHMyotonia congenita is a genetic disease affecting the mechanism of muscle contraction, the main symptoms of which are muscle hypertrophy, a stiff gait, difficulty swallowing and dental anomalies. Clinical signs appear within a few weeks of birth.
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Exfoliative cutaneous lupus erythematosus (UNC93B1: c.1438C>A)
Test code: DOG-ECLE-GSHPExfoliative cutaneous lupus erythematosus is a genetic skin disease whose symptoms are erythema, scabbing, alopecia and scaling of the skin. The first signs of the disease usually appear during the first year.
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Fatal neonatal interstitial lung disease (LAMP3: c.1159G>A)
Test code: DOG-LUNGNeonatal interstitial lung disease is a genetic disease affecting the pulmonary system and causing lethal hypoxic respiratory failure in the first weeks of life. Other symptoms include lethargy, refusal to suckle and breathing difficulties ('dyspnea' or tachypnea).
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Neonatal Ataxia (GRM1: c.2316_2317ins62bp)
Test code: DOG-BNATNeonatal ataxia, also known as Bandera syndrome, is caused by a genetic mutation that alters the part of the nervous system that controls coordination and movement. Symptoms of neonatal ataxia include falling and inability to walk.€49.85