DNA - based testing for hereditary diseases
Collapse with increased limb extensor tone
Description: Neurological condition leading to dyskinesia induced by exercise, excitement or stress and characterised by hypertonicity of all four limbs.
Symptoms : Muscular hypertonicity of the limbs and trunk muscles, "deer-stalker" gait leading sometimes to collapse
Age of onset : From 14 weeks to 4 years
Frequency : French population: 14,8% carriers ; English population: 8% carriers ; American population: 12,9% carriers
Gene involved : BCAN
Tested mutation : 15.7kb del, exons 1-3
Transmission : Autosomal Recessive
Patent :
Notes : Also called "sudden collapse". As Episodic Falling Syndrome is a highly variable condition, some homozygous mutated dogs will not show clinical signs of EFS. Conversely, some dogs can show symptoms close to EFS, this genetic test may then contribute to a differential diagnosis especially between this disease and different types of epilepsy.
Dry eye curly coat syndrome
Dry eye curly coat syndrome
Description: Conjunctivitis sicca associated with a frizzy characteristic coat present from birth
Symptoms : Ocular discharge due to reduced production of aqueous tears, persistent scale along the dorsal spine, frizzy and alopecic coat, gingivitis, hyperkeratinised abdominal skin and footpads with nail growth abnormalities
Age of onset : From birth
Frequency : French population : 7,3% carriers ; English population : 8% carriers
Gene involved : FAM83H
Tested mutation : c.1016delC (Exon 5)
Transmission : Autosomal Recessive
Patent : _
Notes : _
ANTAGENE performs genetic identification and parentage verification for a puppy and a kitten
ANTAGENE produces an unique genetic fingerprint of a dog or a cat
ANTAGENE is involved into discovering the causes of hereditary diseases and developp new DNA screening tests
Heart valve defect
Speciality Cardiology
Description : Degradation of the mitral valve causing a leak during cardiac contraction and partial regurgitation of blood. Late-onset progressive disorder
Symptoms : Cardiac arrhythmia, cardiac murmur, exercise intolerance, cardiac insufficiency
Age of onset : The average age of onset is between 6 and 8 years, but in some cases, first symptoms appear at 3-4 years old
Examination : Auscultation
Progress : Undergoing sampling
Prélèvements pour participer à la recherche : Blood sample in EDTA tube (2-4 mL)
Documents to be attached to samples : Clinical certificate, Sampling certificate, Copy of pedigree
Collaboration : Team of Pr Valérie Chetboul (ENVA-UCA, France)
Contact : mageane@antagene.com
Comment : Other name: degenerative mitral valve disease
ANTAGENE is involved into discovering the causes of hereditary diseases and developp new DNA screening tests
Heart valve defect
Speciality Cardiology
Description : Degradation of the mitral valve causing a leak during cardiac contraction and partial regurgitation of blood. Late-onset progressive disorder
Symptoms : Cardiac arrhythmia, cardiac murmur, exercise intolerance, cardiac insufficiency
Age of onset : The average age of onset is between 6 and 8 years, but in some cases, first symptoms appear at 3-4 years old
Examination : Auscultation
Progress : Undergoing sampling
Prélèvements pour participer à la recherche : Blood sample in EDTA tube (2-4 mL)
Documents to be attached to samples : Clinical certificate, Sampling certificate, Copy of pedigree
Collaboration : Team of Pr Valérie Chetboul (ENVA-UCA, France)
Contact : mageane@antagene.com
Comment : Other name: degenerative mitral valve disease