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DERMA ereditaria regionale equina (HERDA)

    Test del DNA per l'Astenia Dermica Regionale Ereditaria Equina (HERDA). Questo test verifica la presenza del gene recessivo HERDA. Campione...

    €43.05 incl. I.V.A.

      Informazioni sul testInformazioni sul test

      Il Test del DNA HERDA rileva la presenza della mutazione recessiva responsabile di Dermatosi Regionale Ereditaria Equina (HERDA).

      Questo test genetico identifica i cavalli che sono sani, portatori o affetti da HERDA, aiutando gli allevatori a prendere decisioni di allevamento informate e a prevenire la nascita di puledri affetti.

      Perché testare?Perché testare?

      Il test per HERDA aiuta a:

      • Identificare i cavalli portatori della mutazione HERDA.
      • Evitare l'accoppiamento di due cavalli portatori.
      • Prevenire la nascita di puledri affetti.
      • Supportare programmi di allevamento responsabili.
      • Confermare lo stato genetico degli animali da riproduzione.
      Segni cliniciSegni clinici

      Affected foals rarely show anything at birth. Serious skin damage starts on average at about a year and a half and is usually noticed between 18 and 24 months, often when the horse is first broken to saddle. A knock or a rub can bring it out as early as 6 months, and a few horses show nothing until they are four or five.

      • Swellings under the skin, filled with fluid or blood, which owners often call blisters. This is the most common first sign.
      • Loose skin that lifts away easily when pinched and does not spring back
      • Open wounds, skin that comes away from ordinary contact, and wounds that heal badly
      • Disfiguring scars, with thin white hairs where the coat grows back
      • Damage along the back from the withers to the croup, and also over the hindquarters, neck, sides of the chest and belly, lower legs, face, top of the tail and coronary band
      • The skin damage does not itch and is not painful in itself, but large open areas and blood-filled swellings do hurt and change the horse's behaviour
      • Heat and sunlight make it worse; several weeks kept in a stable tend to improve it
      • Ulcers on the surface of the eye, weaker tendons and ligaments in the lower leg and a higher risk of arthritis have also been described
      • Two affected horses have been reported with a skin cancer that spread through the body

      None of these signs is unique to HERDA. Your veterinarian makes the diagnosis, using the history, the examination and this result.

      TrasmissioneTrasmissione

      HERDA is recessive. A foal needs one copy from the sire and one from the dam to be affected. The gene is not on a sex chromosome, so colts and fillies are affected equally.

      What each mating can produce:

      • n/n x n/n gives 100% n/n
      • n/n x n/HERDA gives 50% n/n, 50% n/HERDA
      • n/n x HERDA/HERDA gives 100% n/HERDA
      • n/HERDA x n/HERDA gives 25% n/n, 50% n/HERDA, 25% HERDA/HERDA
      • n/HERDA x HERDA/HERDA gives 50% n/HERDA, 50% HERDA/HERDA
      • HERDA/HERDA x HERDA/HERDA gives 100% HERDA/HERDA
      PrevenzionePrevenzione

      There is no cure, so prevention is a breeding decision.

      Breeding. Mate a carrier only with a partner that tested negative, and test every foal. No affected foals are born, though some foals will be carriers. This keeps a valuable line while the variant is bred out. Being a carrier is not by itself a reason to stop breeding a horse.

      Managing an affected horse. An affected horse can be kept comfortable, but no treatment restores the skin. Many are put down because they cannot be ridden and should not be bred from. Your veterinarian guides riding, wound care and quality of life.

      RisultatiRisultati

      Il test del DNA verifica la presenza del gene recessivo HERDA e presenta i risultati come uno dei seguenti:

      • N/ - Negativo per HERDA. Assenza del gene difettoso responsabile di HERDA.
      • N/HERDA - Portatore - Eterozigote positivo per HERDA. Presenza di una copia dell'allele responsabile di HERDA. Il cavallo è portatore di HERDA e può trasmettere una copia dell'allele HERDA alla sua progenie durante l'accoppiamento.
      • HERDA/ - Ommozigote positivo per HERDA. Presenza di due copie dell'allele responsabile di HERDA. Il cavallo è affetto dal disturbo HERDA e può trasmettere l'allele HERDA al 100% della sua progenie durante l'accoppiamento.
      Requisiti di esempioRequisiti di esempio

      30 a 40 - radici dei capelli - busta o 5 mL - sangue - tubo 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

      2 a 5 giorni lavorativi

      Come funzionaCome funziona

      🛒 Acquista il Test: Seleziona e acquista il test online.

      📧 Ricevi le Istruzioni: Dopo la conferma del pagamento, ricevi le istruzioni per il prelievo del campione.

      ✨ Prelievo del Campione: Il tuo veterinario preleva il campione o raccogli le radici dei peli seguendo le istruzioni fornite.

      📄 Scarica il Modulo di Invio: Scarica il modulo di invio stampabile.

      📮 Invia i Campioni: Invia a:

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

      📄 Ricevi i Risultati: Il certificato del tuo test del DNA sarà inviato via email.

      Domande frequentiDomande frequenti

      Cos'è HERDA?

      HERDA è una malattia ereditaria della pelle che causa pelle estremamente fragile, scarsa guarigione delle ferite e cicatrici gravi nei cavalli colpiti.

      I cavalli portatori possono sviluppare la malattia?

      No. I cavalli portatori sono clinicamente sani ma possono trasmettere la mutazione HERDA a circa il 50% della loro prole.

      Quali razze sono più comunemente colpite?

      HERDA si verifica principalmente nei American Quarter Horses, in particolare nelle linee di cavalli da cutting, anche se razze correlate possono portare la mutazione.

      Si può prevenire HERDA?

      Sì. Testare il DNA degli animali da riproduzione ed evitare accoppiamenti tra portatori previene la nascita di puledri affetti.

      Quando dovrebbe essere testato un cavallo?

      Qualsiasi cavallo destinato alla riproduzione, specialmente Quarter Horses e razze correlate, dovrebbe essere testato prima dell'accoppiamento per determinarne lo stato genetico.

      For ProfessionalsFor Professionals

      Genetic and clinical detail for veterinarians, geneticists and laboratories.

      • Gene / locus: PPIB (peptidylprolyl isomerase B, cyclophilin B), ECA1.
      • Variant: G39R (Gly39Arg), missense. HGVS (EquCab3.0): NC_009144.3:g.129307092G>A; NM_001099761.1:c.115G>A; NP_001093231.1:p.(Gly39Arg).
      • Alternative designations: G6R in Ishikawa et al. (2012), counted from a different starting residue of the protein; both names denote the same change. Disease synonyms: hereditary (heritable) equine regional dermal asthenia, hyperelastosis cutis.
      • Variant identifiers: rs396329681 (EVA); OMIA variant 157.
      • Variant classification: not currently evaluated (ISAG/AVCG, per OMIA).
      • Mechanism: isomerase activity preserved, but cyclophilin B protein interactions and collagen folding are altered, so dermal collagen is abnormal (Ishikawa et al., 2012).
      • Inheritance: autosomal recessive (OMIA code R; Tryon et al., 2005). Generally attributed to a founder effect.
      • Breeds with documented carriers or cases: Quarter Horse (OMIA variant record); affected American Paint Horses and Appaloosas also reported, both registries with Quarter Horse ancestry. Of 58 affected horses, 52 Quarter Horses, 4 Paints, 2 Appaloosas (Tryon et al., 2005); of 50 affected horses, 43 Quarter Horses, 1 Quarter Horse cross, 4 Paints, 2 Appaloosas (White et al., 2004).
      • Allele / carrier frequencies: carrier frequency 3.5% (38 of 1,079 unaffected control Quarter Horses; Tryon et al., 2007). Carrier frequency by discipline about 28% in cutting, 12.8% in western pleasure and 11.5% in working cow horses, and 1.7% in American Paint Horses (Rashmir-Raven, 2013). Carrier frequency 1.6% (2 of 125 Quarter Horses in France, both mares; White and Bourdeau, 2011). Allele frequency 13.5% in elite cutting Quarter Horses, with no change over time in the random cohort (Brown et al., 2026; 300 performance and 300 random horses born 2020 to 2024). Carrier and allele frequencies are not interchangeable; for a rare recessive the allele figure is roughly half the carrier figure.
      • Clinical / diagnostic notes for veterinarians: age at first owner observation ranged from birth to four years in the White et al. (2004) series. None of those 50 horses had joint hyperlaxity or visceral involvement; later work describes joint laxity at birth in some foals, and viscera were normal in the foal and dam followed by White et al. (2007). Corneal thinning has been described. One adult HERDA/HERDA horse was reported working normally with mild signs (Patterson Rosa et al., 2021), so genotype does not predict severity. Skin biopsy is a separate procedure; histopathology is suggestive but not diagnostic, and suspected cases should be confirmed by genotyping. Fragile-skin disease not caused by this variant occurs, including in a Quarter Horse gelding (Steelman et al., 2013).

      Key references:

      • Tryon RC, White SD, Bannasch DL (2007). Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse. Genomics 90:93-102. doi:10.1016/j.ygeno.2007.03.009. PMID 17498917.
      • Tryon RC, White SD, Famula TR, Schultheiss PC, Hamar DW, Bannasch DL (2005). Inheritance of hereditary equine regional dermal asthenia in Quarter Horses. Am J Vet Res 66:437-442. doi:10.2460/ajvr.2005.66.437.
      • White SD, Affolter VK, Bannasch DL, Schultheiss PC, Hamar DW, Chapman PL, et al. (2004). Hereditary equine regional dermal asthenia (hyperelastosis cutis) in 50 horses: clinical, histological, immunohistological and ultrastructural findings. Vet Dermatol 15:207-217. doi:10.1111/j.1365-3164.2004.00402.x.
      • Ishikawa Y, Vranka JA, Boudko SP, et al. (2012). Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding. J Biol Chem 287:22253-22265. doi:10.1074/jbc.M111.333336.
      • White SD, Bourdeau P (2011). Prevalence of the mutation in cyclophilin B (PPIB), a causal candidate gene for HERDA, among Quarter Horses in France. Vet Dermatol 22:206-208. doi:10.1111/j.1365-3164.2010.00941.x.
      • Rashmir-Raven A (2013). Heritable equine regional dermal asthenia. Vet Clin North Am Equine Pract 29:689-702. doi:10.1016/j.cveq.2013.09.001.
      • Brown BN, Hughes S, Le TM, Tatar NP, Grahn JC, Carrillo-Alvarez M, Bellone RR, Finno CJ (2026). Allele frequencies of 7 inherited disorders in performance and random cohorts of American Quarter Horses (2020-2024). J Am Vet Med Assoc 1-7. doi:10.2460/javma.26.04.0256.

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