health TEST DESCRIPTIONS

Degenerative Myelopathy (SOD1)

Degenerative Myelopathy is a mutation of the SOD1 gene. A late-onset degenerative neurological disease of the spinal cord that is prevalent in many canine breeds.

Cystinuria

Cystinuria is an autosomal recessive metabolic disorder, characterized by the accumulation of cysteine crystals in urine.

Pyruvate Kinase Deficiency (PKLR)

The deficiency of the Pyruvate Kinase enzyme impairs the red blood cells ability to metabolise, which causes anemia and other blood-related problems.

Centronuclear Myopathy (BIN1)


An autosomal recessive disorder that results in loss of muscle tone and control.

Centronuclear Myopathy (PTPLA)

An autosomal recessive disorder that results in loss of muscle tone and control.

Copper Storage Disease (ATP7B)

An autosomal recessive disorder where excess copper is stored in the liver leading to liver failure.

Exercise Induced Collapse (NEI)

EIC is an autosomal recessive condition characterized by the intolerance of strenuous exercise.

Progressive Retinal Atrophy (PRCD)

Progressive Retinal Atrophy (PRA) is a collective of genetic eye disorders that affect the photoreceptor cells leading to blindness.

Progressive Retinal Atrophy (GR_PR1)

Progressive Retinal Atrophy (PRA) is a collective of genetic eye disorders that affect the photoreceptor cells leading to blindness.

Progressive Retinal Atrophy (GR_PR2)

Progressive Retinal Atrophy (PRA) is a collective of genetic eye disorders that affect the photoreceptor cells leading to blindness.

Progressive Retinal Atrophy (rcd1)

Progressive Retinal Atrophy (PRA) is a collective of genetic eye disorders that affect the photoreceptor cells leading to blindness.

Progressive Retinal Atrophy (rcd3)

Progressive Retinal Atrophy (PRA) is a collective of genetic eye disorders that affect the photoreceptor cells leading to blindness.

Progressive Retinal Atrophy (cnga1)

Progressive Retinal Atrophy (PRA) is a collective of genetic eye disorders that affect the photoreceptor cells leading to blindness.

Progressive Retinal Atrophy XL-PRA (RPGR)

Progressive Retinal Atrophy (PRA) is a collective of genetic eye disorders that affect the photoreceptor cells leading to blindness.

Progressive Retinal Atrophy (NECAP)

Progressive Retinal Atrophy (PRA) is a collective of genetic eye disorders that affect the photoreceptor cells leading to blindness.

Goniodysgenesis & Glaucoma (OLFML3)

An autosomal recessive disorder where increased pressure in the eye, due to abnormal fluid build-up, damages the ganglion layer of the retina, leading to blindness.

Primary Open Angle Glaucoma (ADAMTS10)

An autosomal recessive disorder where increased pressure in the eye, due to abnormal fluid build-up, damages the ganglion layer of the retina, leading to blindness.

Primary Lens Luxation (ADAMTS17)

Primary lens luxation (PLL) is an eye condition characterized by lens dislocation resulting in blindness.

Heritable cataracts (HSF4)

A disorder where the lens of the eye becomes cloudy and will, over time, result in blindness.

Canine Multifocal Retinopathy 1 (BEST1)

An autosomal recessive disorder that causes retinal detachment and raised lesions on the retina.

Achromatopsia (CNGB3)

Achromatopsia or “day blindness” is a progressive disorder where the cone cells do not function and will not adjust the eye to bright light or register colour.

Photoreceptor dysplasia (PDC)

An autosomal recessive disorder characterised by night or day blindness (a form of PRA).

Collie Eye Anomaly (CEA)

An ocular disorder where the choroid layer develops abnormally in Collie breeds.

Multiple drug resistance (MDR1)

A mutation that causes sensitivity and intolerance to various drugs, the most common being Ivermectin.

Imerslund-Gräsbeck Syndrome (IGS)

A disorder characterised by malabsorption in the intestine leading to a Vitamin B12 deficiency.

Trapped Neutrophil Syndrome (TNS)

An autosomal recessive mutation where while blood cells are “trapped” in the bone marrow and not transferred to the blood, resulting in a low immune system.

Neuronal Ceroid Lipofuscinosis (CLN5)

A collection of neurological disorders characterised by degeneration of the central nervous system.

Neuronal Ceroid Lipofuscinosis (CLN1/PPT1)

A collection of neurological disorders characterised by degeneration of the central nervous system.

Neuronal Ceroid Lipofuscinosis (CLN2/TTP1)

A collection of neurological disorders characterised by degeneration of the central nervous system.

Neuronal Ceroid Lipofuscinosis (CLN6)

A collection of neurological disorders characterised by degeneration of the central nervous system.

Neuronal Ceroid Lipofuscinosis (CLN8)

A collection of neurological disorders characterised by degeneration of the central nervous system.

Neuronal Ceroid Lipofuscinosis (CTSD)

A collection of neurological disorders characterised by degeneration of the central nervous system.

Neuronal Ceroid Lipofuscinosis (CLN8)

A collection of neurological disorders characterised by degeneration of the central nervous system.

Cerebellar Ataxia (ARSG)

An autosomal recessive disorder where the cells of the cerebellum deteriorate, resulting in decreased motor coordination.

Neonatal cerebellar cortical degeneration NCCD (SPTBN2)

An autosomal recessive disorder where the cells of the cerebellum deteriorate, resulting in decreased motor coordination.

Hyperuricosuria (HUU) (SLC2A9)

An autosomal recessive disorder characterised by high levels if uric acid in the urine which leads to formation of kidney stones and other urinary tract issues.

Malignant Hyperthermia (MFSD12)

A sudden onset disorder that is mainly characterised by a rapid increase in body temperature and muscle contraction, often leading to death.

Juvenile Laryngeal Paralysis & Polyneuropathy (JLPP)

Juvenile Laryngeal Paralysis & Polyneuropathy (JLPP) is a neurological disease that primarily affects the ability of nerves, in particular the larynx, to contract.

Leukoencephalomyelopathy LEMP (NAPEPLD)

A neurodegenerative disorder, affecting the central nervous system, resulting in progressive loss of balance and increased immobility.

X-linked myotubular myopathy (MTM1)

A condition which results in progressive muscular atrophy.

Neuroaxonal Dystrophy (VPS11)

A degenerative neurological disease, resulting in uncoordinated movement and tremors.

Neuronal Ceroid Lipofuscinosis (1TRP1)

A condition characterised by a progressive degenerative disease of the central nervous systems.

Novell Cerebellar Cortical Degeneration (SNX14)

A condition characterised by a lack of muscle control and coordination.

Neural Hypomyelination (FNIP2)

A condition caused by insufficient myelin production, which affects the central nervous system.

Spinal Dysraphism (NKX2-8)

A condition resulting from abnormal embryonic development, which results in defective spinal canal functioning leading to neurological abnormalities.

Congenital Myotonia (CIC1)

A condition characterised by prolonged contraction or delayed relaxation of a muscle.

Late onset Spinocerebellar Ataxia (CAPN1)

A condition characterised by late-onset progressive incoordination, balance issues and abnormal movements.

Spinocerebellar Ataxia (KCNJ10)

A condition characterised by progressive incoordination, balance issues and abnormal movements.

L2-Hydroxyglutaric Aciduria (L2HGA)

A condition characterised by impaired mobility, seizures, and ataxia.

Familial Nephropathy (FN)

A condition characterised by chronic renal failure, occurring between 6 months to 2 years of age.

Myoclonic Epilepsy (DIRAS1)

A condition characterised by seizures triggered by sudden audio or visual stimulation.

Arrhythmogenic Right Ventricular Cardiomyopathy (STRN)

A condition characterised by the replacement of heart muscle with fatty tissue.

Dilated Cardiomyopathy (PDK4)

A condition affecting the cardiac muscle resulting in an abnormal ability to pump blood through the vascular system.

Hereditary Nasal Parakeratosis (SUV39H2)

A condition characterised by abnormalities in specialised cells of the nose, which results in the formation of crusts over the nasal area and the accumulation of fluid.

Ichthyosis (PNPLA1)

A condition characterised by skin which is covered with thick, greasy flakes of skin that stick to the hair.

Musladin Leuke Syndrome (ADAMTSL2)

A condition affecting the development and structure of connective tissue resulting in abnormal body form and movement.

Lupus Erythematosus (DPF2)

A condition affecting the skin, resulting in crusting, scabbing and loss of pigmentation in the affected areas.

Lethal Acrodermatitis (LAD) MKLN1

A condition characterised by an abnormal thickening of the skin around the paws, lesions on the mucosal and facial region and poor growth.

Polycystic Kidney Disease (BTPKD)

A condition characterised by abnormalities in the differentiation of cells, which results in the formation of cysts in the kidneys.

Phosphofructokinase (PFK)

A condition characterised by an adverse reaction to physical activity due to abnormal metabolism.

Factor VII deficiency (FVII)

A condition characterised by abnormal coagulation, resulting in excessive bleeding in response to trauma or surgery.

von Willebrand’s Disease

A condition characterised by abnormal clotting function, which results in spontaneous internal bleeding or prolonged bleeding due to trauma.

Haemophilia B (Factor IX)

A condition characterised by abnormal clotting function, where spontaneous bleeds into the skin, chest abdomen or joints can occur.

Cleft Palate (DXL6)

A condition characterised by a lack of separation between the mouth and nose, due to abnormal tissue development between those areas.

Raine Syndrome (FAM20C)

A condition characterised by a reduction of mineralisation in the dentition, which results in weak teeth which wear down quickly.

Fucosidosis (FUCA1)

A lysosome storage disease, which results in progressive and eventually fatal, neurological symptoms.

Sensory Neuropathy (FAM134B)

A condition characterised by the degeneration of the sensory and motor nerves.