Produktformular

PSSM1 + WFFS/FFS -2 DNA-tests

    DNA-test for Polysaccharide Storage Myopathy Type 1 (PSSM1). Denne test verificerer tilstedeværelsen af ​​den berørte allel på GYS1-locuset, der er ansvarlig...

    €73.80 Inkl. moms

      Om testenOm testen

      This bundle tests your horse for two inherited diseases: Warmblood Fragile Foal Syndrome (WFFS, also called FFS), which affects foals, and PSSM1, a muscle disease.

      It is made for Warmbloods and suits any horse with Warmblood, draft or stock-horse ancestry.

      Hvorfor teste?Hvorfor teste?

      Studbook registration. Several Warmblood studbooks, including the KWPN, require a PSSM1 result for registration. Check your studbook's current rules.

      Breeding. Knowing the result of both parents before mating prevents WFFS foals and tells you what each mating can produce for PSSM1.

      Buying and selling. Both results are objective information you can show a buyer.

      Early management. A PSSM1-positive horse can start the right diet and exercise before muscle damage builds up.

      Kliniske tegnKliniske tegn

      WFFS. Think of it after an abortion, a stillbirth, or a foal born too weak and fragile to survive in Warmblood breeding.

      PSSM1. Commonly reported signs:

      • Muscle stiffness and reluctance to go forward
      • Tying up: painful muscle cramping, often soon after work begins
      • Sweating and signs of pain that can look like colic
      • Dark urine during severe episodes
      • In draft horses, weakness and difficulty getting up

      None of these signs is unique to PSSM1 or WFFS. Your veterinarian makes the diagnosis in a sick horse or foal.

      TransmissionTransmission

      WFFS is recessive. A foal is affected only if it gets one copy from each parent. A horse with one copy is a healthy carrier.

      • n/n x n/WFFS gives 50% n/n, 50% n/WFFS: no affected foals
      • n/WFFS x n/WFFS gives 25% n/n, 50% n/WFFS, 25% WFFS/WFFS

      PSSM1 is dominant. One copy is enough to make a horse susceptible.

      • n/n x n/P1 gives 50% n/n, 50% n/P1
      • n/n x P1/P1 gives 100% n/P1
      • n/P1 x n/P1 gives 25% n/n, 50% n/P1, 25% P1/P1

      The two genes are inherited separately. Neither is on a sex chromosome, so colts and fillies are affected equally.

      ForebyggelseForebyggelse

      WFFS. Never mate two carriers. Breeding a carrier only to partners that tested negative keeps good bloodlines in use while the variant is bred out.

      PSSM1, breeding. Mate a positive horse only with a partner that tested negative.

      PSSM1, management. Plan with your veterinarian:

      • A diet low in starch and sugar
      • Extra calories from fat
      • Daily turnout and steady exercise
      • No sudden jump in work after a rest period
      ResultaterResultater

      PSSM1

      • n/n:Fri.
      • n/P1:Heterozygot.
      • P1/P1:Homozygot syg.

      WFFS

      • n/n:Fri.
      • n/WFFS:Bærer.
      • WFFS/WFFS:Homozygot syg.
      Krav til prøverKrav til prøver

      Hair roots: 20 to 40 hairs pulled (not cut) from the mane or tail, with the roots attached. Tape them inside the marked area of the printable sample submission form. Hairs without roots cannot be analysed.

      Blood: 5 mL of whole blood in a K3-EDTA tube, collected by a veterinarian. Label the tube with the horse's name and send it with the submission form.

      One sample covers both tests. Keep samples dry and at room temperature, and do not freeze them. Do not send hair that is wet, mouldy or soiled with bedding or faeces.

      Send din prøve med almindelig post eller ekspreslevering til:

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

      BehandlingstidBehandlingstid

      Standard processing: results within 5 to 10 working days of the sample arriving at the laboratory. Shipping is arranged and paid for by the client, and transit time is not included in the 5 to 10 working days.

      Samples that fail DNA extraction or amplification are repeated at no extra cost, which may add a few working days. We contact you if a new sample is required.

      Sådan fungerer detSådan fungerer det

      🛒 Køb testen:Vælg og køb testen online.

      📧 Modtag instruktioner:Efter betalingsbekræftelse modtager du instruktioner til prøveindsamling.

      ✨ Prøveindsamling:Din dyrlæge indsamler hårrødder eller en blodprøve.

      📄 Download indsendelsesformular:Download den udskrivbare indsendelsesformular.

      📮 Send prøver:Send dine prøver med almindelig post eller ekspreslevering til:

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

      📄 Modtag resultater:Modtag dit resultatcertifikat via e-mail.

      Ofte stillede spørgsmålOfte stillede spørgsmål

      Hvorfor bør jeg teste for både PSSM1 og WFFS?

      Test af begge mutationer giver værdifuld information til avl og sundhedsstyring.

      Hvilken prøve er påkrævet?

      20 til 30 hårrødder eller 5 ml blod opsamlet i et K3 EDTA-rør.

      Hvor lang tid tager testen?

      Resultater er tilgængelige inden for5 arbejdsdageefter modtagelse af prøven.

      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.

      • WFFS: PLOD1 (ECA2); NC_009145.3:g.39927817C>T; XM_001491331.6:c.2032G>A, p.(Gly678Arg); rs1136065234; autosomal recessive; ISAG/AVCG not currently evaluated.
      • PSSM1: GYS1 (ECA10); NC_009153.3:g.19203501C>T; NM_001126125.2:c.926G>A, p.(Arg309His) (R309H); rs1150416011; autosomal incomplete dominant; ISAG/AVCG Pathogenic (P).
      • Breeds: WFFS was first described in Warmbloods and related breeds and is reported less often in other breeds in Europe and the United States. PSSM1 is reported in American Paint, Appaloosa, Belgian Draft and Quarter Horses, the Haflinger and the Noric, and across five draft breeds, three Warmblood breeds, the Morgan, the Mustang and the Rocky Mountain Horse.
      • Clinical notes for veterinarians: in Warmbloods only 18% of biopsy-diagnosed PSSM cases carried GYS1 R309H (McCue et al., 2008b), so a negative PSSM1 result does not exclude a PSSM2/MFM biopsy diagnosis.

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