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Certificato privo di disturbi genetici

      Linee Certificate Senza Disturbi del DNA Assicurati che la linea genetica del tuo cavallo sia priva di disturbi genetici...

    €299.00 incl. I.V.A.

      Informazioni sul testInformazioni sul test

      Assicurati che la linea genetica del tuo cavallo sia priva di disturbi genetici con il nostro completo pannello di test del DNA. Certifica il tuo cavallo contro 10 disturbi genetici: SCID, LFS, CA, PSSM1, HYPP, GBED, HERDA, MH, CM, WFFS.

      Perché testare?Perché testare?

      Il nostro test Certified DNA Disorder-Free Lines aiuta allevatori, acquirenti e certificatori di registri genealogici a garantire che i cavalli siano privi di disturbi genetici. Questo assicura cavalli più sani, decisioni di allevamento informate e una maggiore tranquillità.

      Segni cliniciSegni clinici

      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.

      TrasmissioneTrasmissione

      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.

      PrevenzionePrevenzione

      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.

      RisultatiRisultati

      Un Certificato di Linee Senza Disturbi del DNA viene rilasciato, riportando lo stato genetico del cavallo per i seguenti disturbi: SCID, LFS, CA, PSSM1, HYPP, GBED, HERDA, MH, CM, WFFS.

      Requisiti di esempioRequisiti di esempio

      30-40 radici dei capelli (deve includere il bulbo della radice) o 5 mL di sangue in una provetta K3 EDTA.

      Invia il tuo campione tramite posta ordinaria o corriere espresso a:

      Equigerminal Lab HIESE
      Rua da Quinta do Sobreiro Nº25
      3230-343 Penela, Portogallo

      Tempi di consegnaTempi di consegna

      Elaborazione standard – Risultati in 5-10 giorni lavorativi dall'arrivo del campione in laboratorio.

      Come funzionaCome funziona

      ✨ Acquista il Test: Seleziona e acquista il test del DNA online.

      📄 Ricevi le Istruzioni: Dopo la conferma del pagamento, ricevi le istruzioni per la raccolta delle radici dei capelli e un modulo di invio stampabile.

      ✂️ Raccogli le Radici dei Capelli: Estrai le radici dei capelli, fissale con del nastro sul modulo di invio, inseriscilo in una busta o in un sacchetto di plastica sigillato.

      📬 Invia i Campioni: Spedisci al nostro laboratorio tramite posta ordinaria o corriere espresso a:

      Equigerminal Lab, HIESE
      Rua da Quinta do Sobreiro Nº25
      3230-343 Penela, Portogallo

      📧 Ricevi i Risultati: Ricevi il certificato dei risultati via email. Se hai bisogno di assistenza, contattaci a support@equigerminal.pt.

      ♻️ Nota: Non è necessario un kit per la raccolta del campione, migliorando la sostenibilità riducendo rifiuti e uso di plastica.

      Domande frequentiDomande frequenti

      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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