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Certifié sans trouble ADN

      Lignées certifiées sans troubles génétiques Assurez-vous que la lignée de votre cheval est exempte de troubles génétiques grâce à...

    €299.00 Incl. T.V.A.

      À propos du testÀ propos du test

      Assurez-vous que la lignée de votre cheval est exempte de troubles génétiques grâce à notre panel complet de tests ADN. Certifiez votre cheval contre 10 troubles génétiques : SCID, LFS, CA, PSSM1, HYPP, GBED, HERDA, MH, CM, WFFS.

      Pourquoi tester ?Pourquoi tester ?

      Notre test certifié de lignées exemptes de troubles génétiques aide les éleveurs, acheteurs et certificats de studbook à s'assurer que les chevaux sont exempts de maladies génétiques. Cela garantit des chevaux en meilleure santé, des décisions d'élevage éclairées et une tranquillité d'esprit accrue.

      Signes cliniquesSignes cliniques

      What each disease looks like in an affected horse:

      • SCID (Severe Combined Immunodeficiency): the foal looks normal at birth, then from about 10 days old has repeated infections and dies in the first months
      • LFS (Lavender Foal Syndrome): a pale-coated newborn foal with fits, unable to stand or nurse
      • CA (Cerebellar Abiotrophy): head tremor and poor balance, usually starting between about six weeks and four months of age
      • PSSM1 (Type 1 Polysaccharide Storage Myopathy): stiffness, reluctance to go forward and tying-up after exercise
      • HYPP (Hyperkalemic Periodic Paralysis): attacks of muscle tremor and weakness that come and go
      • GBED (Glycogen Branching Enzyme Deficiency): abortion, stillbirth, or a weak foal that dies within weeks
      • HERDA (Hereditary Equine Regional Dermal Asthenia): fragile skin that tears and scars, often first noticed when the horse is started under saddle
      • MH (Malignant Hyperthermia): a normal-looking horse that has a fast, potentially fatal attack during anaesthesia, hard exercise or stress
      • CM (Congenital Myotonia): muscles that are slow to relax, so the pony is stiff and struggles to get up
      • WFFS (Warmblood Fragile Foal Syndrome): abortion, stillbirth, or a foal born too weak and fragile to survive

      None of these signs is unique to one disease. In a sick horse, your veterinarian makes the diagnosis from the examination and the DNA result.

      TransmissionTransmission

      Seven diseases are recessive: SCID, LFS, CA, GBED, HERDA, CM and WFFS. A foal is affected only if it gets one copy from each parent. A horse with one copy is a healthy carrier.

      • Carrier x clear gives 50% carriers, no affected foals
      • Carrier x carrier gives 25% clear, 50% carriers, 25% affected

      Three are dominant: PSSM1, HYPP and MH. One copy is enough to make a horse susceptible.

      • One copy x clear gives 50% clear, 50% susceptible
      • One copy x one copy gives 25% clear, 50% one copy, 25% two copies

      Each disease is inherited separately. None of the genes is on a sex chromosome, so colts and fillies are affected equally.

      PréventionPrévention

      Preventing affected foals.

      • Never mate two carriers of the same recessive disease
      • A carrier mated only to partners that tested clear produces no affected foals, so good bloodlines can stay in use while the variant is bred out
      • Breeding a horse positive for PSSM1, HYPP or MH passes the risk on to its foals
      • Test the partner too: the panel shows which of the ten diseases matter for each mating

      Looking after a positive horse. A horse positive for PSSM1, HYPP or MH needs a plan made with your veterinarian: feeding and exercise for PSSM1 and HYPP, and precautions before any anaesthesia for MH. Tell your veterinarian the result before any operation.

      RésultatsRésultats

      Un Certificat de lignées exemptes de troubles génétiques est délivré, indiquant le statut génétique du cheval pour les troubles suivants : SCID, LFS, CA, PSSM1, HYPP, GBED, HERDA, MH, CM, WFFS.

      Exigences d'échantillonExigences d'échantillon

      30 à 40 racines de cheveux (doivent inclure le bulbe racinaire) ou 5 mL de sang dans un tube K3 EDTA.

      Envoyez votre échantillon par courrier ordinaire ou livraison express à :

      Laboratoire Equigerminal HIESE
      Rua da Quinta do Sobreiro Nº25
      3230-343 Penela, Portugal

      Délai d'exécutionDélai d'exécution

      Traitement standard – Résulte en 5 à 10 jours ouvrables après l'arrivée de l'échantillon au laboratoire.

      Comment ça marcheComment ça marche

      ✨ Achetez le test : Sélectionnez et achetez le test ADN en ligne.

      📄 Recevez les instructions : Après confirmation du paiement, recevez les instructions pour la collecte des racines de cheveux et un formulaire de soumission imprimable.

      ✂️ Collectez les racines de cheveux : Arrachez les racines de cheveux, collez-les sur le formulaire de soumission, placez-le dans une enveloppe ou un sac plastique scellé.

      📬 Envoyez les échantillons : Envoyez-les à notre laboratoire par courrier ordinaire ou livraison express à :

      Laboratoire Equigerminal, HIESE
      Rua da Quinta do Sobreiro Nº25
      3230-343 Penela, Portugal

      📧 Recevez les résultats : Recevez le certificat de résultat par email. Si vous avez besoin d’aide, contactez-nous à support@equigerminal.pt.

      ♻️ Note : Aucun kit de collecte d’échantillons nécessaire, ce qui améliore la durabilité en réduisant les déchets et l’utilisation de plastique.

      Questions fréquentesQuestions fréquentes

      At what age can a horse be tested?
      Any age. The genotypes are fixed at conception, so one test lasts for life.

      What is not included?
      Lethal White Foal Syndrome (frame overo), coat colour genes and the MIM (PSSM2) panel. MIM is sold separately, and the link between its variants and disease has not been confirmed by independent research.

      For ProfessionalsFor Professionals

      Genetic and clinical detail for veterinarians, geneticists and laboratories.

      Loci genotyped (gene, variant, inheritance). Full HGVS, identifiers, classification, frequencies and references are on each individual test page.

      • SCID: PRKDC (ECA9), NM_001163858.1:c.9478_9482del, p.(Asn3160fs*3); autosomal recessive.
      • LFS: MYO5A (ECA1), XM_023617258.1:c.4249del (published c.4459delC); autosomal recessive.
      • CA: TOE1 exon 4, near MUTYH (ECA2), XM_001496197.5:c.284G>A, p.(Arg95His); autosomal recessive; associated, not proven causal.
      • PSSM1: GYS1 (ECA10), NM_001126125.2:c.926G>A, p.(Arg309His); autosomal incomplete dominant.
      • HYPP: SCN4A (ECA11), NM_001081761.1:c.4248C>G, p.(Phe1416Leu); autosomal incomplete dominant.
      • GBED: GBE1 (ECA26), NM_001081940.2:c.102C>A, p.(Tyr34*); autosomal recessive, lethal.
      • HERDA: PPIB (ECA1), NM_001099761.1:c.115G>A, p.(Gly39Arg) (also G6R); autosomal recessive.
      • MH: RYR1 (ECA10), XM_023649662.1:c.7363C>G, p.(Arg2455Gly) (published c.7360C>G, R2454G); autosomal dominant.
      • CM: CLCN1 (ECA4), XM_001915636.4:c.1775A>C, p.(Asp592Ala); autosomal recessive.
      • WFFS: PLOD1 (ECA2), XM_001491331.6:c.2032G>A, p.(Gly678Arg); autosomal recessive.
      • Variant classification: ISAG/AVCG Pathogenic (P) per OMIA for GYS1 R309H and GBE1 c.102C>A; the other eight are not currently evaluated.
      • Breeds: SCID and LFS in Arabians and part-bred Arabians, LFS concentrated in Egyptian Arabian lines. CA in the Arab, Bashkir Curly, Icelandic Horse, Quarter Horse, Trakehner and Welsh Pony, mostly through Arabian ancestry. PSSM1 in Quarter Horses, Paints, Appaloosas, draft breeds, some Warmbloods and other breeds. HYPP in Quarter Horses, Paints, Appaloosas and their crosses. GBED in Quarter Horses and Paints. HERDA in Quarter Horses, Paints and Appaloosas. MH in Quarter Horses and related breeds. CM described in New Forest ponies. WFFS described in Warmbloods, reported less often in other breeds.

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