Produktformular

Lavendel Føl Syndrom - LFS

    DNA-test for lavendelfølsyndromet (LFS) – Rene og delavlede arabiske heste. Denne test verificerer tilstedeværelsen af ​​det recessive LFS-gen. Eksempel 30 til...

    €43.05 Inkl. moms

      Om testenOm testen

      Denne DNA-test verificerer tilstedeværelsen af den Lavender Foal Syndrome (LFS)genetiske variant.

      LFS er en autosomal recessiv genetisk lidelse, der primært findes hos fuldblods- og halvtidsarabere.

      Hvorfor teste?Hvorfor teste?

      Denne gentest hjælper avlere med at identificere heste, der er raske, bærere eller ramtaf Lavender Foal Syndrome.

      Testning understøtter informerede avlsbeslutninger og hjælper med at forhindre fødslen af ramte føl.

      Testning anbefales især for arabere og delvis-arabereeller heste med arabisk afstamning.

      Kliniske tegnKliniske tegn

      Signs are there from birth, and only in foals that inherited the change from both parents:

      • A washed-out coat colour, described as pale grey, pewter, light chestnut, silver or lavender. That is where the name comes from.
      • Fits, with the whole body going rigid and the head and neck arched backwards
      • Stiff or paddling movements of the legs, with the limbs held straight out
      • Eyes flicking rapidly from side to side, outside the foal's control
      • Unable to stand and suckle; lying down and not getting up
      • A slightly low white blood cell count in some foals

      There is no treatment. Affected foals die, or are put down because they cannot stand or nurse, within about 72 hours of birth. The diagnosis is made by a veterinarian, combining the history, the examination and this genetic result.

      TransmissionTransmission

      Lavender Foal Syndrome is recessive. A foal needs one copy from the sire and one from the dam to be affected. One copy makes a horse a carrier, never a patient. 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/LFS gives 50% n/n, 50% n/LFS
      • n/LFS x n/LFS gives 25% n/n, 50% n/LFS, 25% LFS/LFS
      ForebyggelseForebyggelse

      Prevention is entirely a breeding decision.

      Breeding. Test breeding stock before mating and never mate two carriers. A carrier mated to a partner that tested negative produces no affected foals.

      Keeping valuable lines. Carrying the change is not a reason to leave a horse out of breeding. Mate a carrier only with partners that tested negative and test every foal. This keeps popular sires and valuable mares in use while the change is bred out.

      Systematic testing of breeding stock is what lowers the number of carriers over time.

      ResultaterResultater

      DNA-testen verificerer tilstedeværelsen af det recessive LFS-gen og præsenterer resultaterne som et af følgende:

      • N/–Ikke-bæreraf LFS-genet. Testet negativ for LFS-genet.
      • N/LFS- Heterozygothest for LFS, både de normale og LFS-alleler blev påvist. Hesten er bærer af LFS genetisk lidelse, og der er 50 % chance for, at denne hest vil videregive en LFS-allel til dens afkom.
      • LFS/– Homozygothest for LFS, bærer af to kopier af LFS-genet. Hesten er ramt af den genetiske LFS-lidelse.
      Krav til prøverKrav til prøver

      30 til 40 - hårrødder - kuvert eller 5 mL - blod - K3 EDTA-rør

      BehandlingstidBehandlingstid

      2 til 5 arbejdsdage

      Sådan fungerer detSådan fungerer det

      🛒 Koop de test: kies de test en koop hem online.

      📧 Ontvang de instructies: na bevestiging van de betaling ontvangt u de instructies voor het afnemen van het monster per e-mail.

      📄 Vul het formulier in: print het inzendformulier en vul het in met de identificatie van het dier.

      ✨ Neem het monster af: trek 20 tot 40 haren met wortel (bulbus) uit en plak ze in het gemarkeerde vak op het formulier, of laat uw dierenarts bloed afnemen in een K3-EDTA-buis.

      📮 Stuur het naar het laboratorium: Equigerminal, S.A., HIESE, Rua da Quinta do Sobreiro, 25, Quinta Vale do Espinhal, 3230-343 Penela, PORTUGAL.

      📊 Ontvang het rapport: het gecertificeerde rapport wordt uitgegeven zodra de analyse is gevalideerd.

      Ofte stillede spørgsmålOfte stillede spørgsmål

      Hvilke prøver kan indsendes?

      Testen kan udføres med 30-40 hårrøddereller 5 mL blod opsamlet i et K3 EDTA-rør.

      Hvilke heste bør testes?

      Test anbefales for fuldblods og halvarabiske heste, heste med arabisk afstamning og avlsdyr, hvor stamtavlen er usikker.

      Hvad betyder resultaterne?


      • N/N:Hesten er fri for LFS-mutationen.

      • N/LFS:Hesten er en sund bærer og kan videregive mutationen til 50 % af dens afkom.

      • LFS/LFS:Hesten er genetisk ramt af Lavender Foal Syndrome.

      Kan bærerheste udvikle sygdommen?

      Nej. Bærerheste (N/LFS) er klinisk normale, men kan overføre mutationen til deres afkom.

      Hvor lang tid tager det at modtage resultaterne?

      Resultaterne er tilgængelige inden for 2 til 5 arbejdsdageefter prøvemodtagelse på laboratoriet.

      For ProfessionalsFor Professionals

      Genetic and clinical detail for veterinarians, geneticists and laboratories.

      • Gene / locus: MYO5A (myosin VA), ECA1.
      • Variant: single-base deletion causing a frameshift and loss of the cargo-binding domain. HGVS (EquCab3.0): NC_009144.3:g.139290592del; XM_023617258.1:c.4249del; XP_023473026.1:p.(Arg1417Alafs*13). The affected protein region is identical in horse, human, mouse and rat.
      • Alternative designations: published as c.4459delC (Brooks et al., 2010) and as g.138235715delC on EquCab2.0. c.4459delC and c.4249del are the same deletion numbered against different reference transcripts; quote both when comparing laboratory reports. Laboratory allele symbol: LFS. Disease synonym: Coat Colour Dilution Lethal.
      • Variant identifiers: no rs/EVA identifier listed in OMIA; OMIA variant 510.
      • Variant classification: not currently evaluated (ISAG/AVCG, per OMIA).
      • Inheritance: autosomal recessive (OMIA code R); lethal in homozygotes.
      • Penetrance / expressivity: all seven affected foals in the discovery study were homozygous; all eight available parents and 16 of 23 other relatives were heterozygous (Brooks et al., 2010). Heterozygotes are phenotypically normal. The same deletion was found independently in South Africa and confirmed by a different method (Bierman et al., 2010).
      • Origin: the affected foals of the discovery study shared a common ancestor six to eight generations back; carriers were later found without that ancestor in their pedigrees, so the founder is probably older. The origin among Egyptian Arabian horses in Egypt was studied by AbouEl Ela et al. (2023).
      • Breeds with documented carriers or cases: Arabian (OMIA variant record), concentrated in Egyptian Arabian lines; part-bred Arabians at risk through Arabian ancestry. Not found in 78 Thoroughbreds or 30 Standardbreds (Brooks et al., 2010).
      • Allele / carrier frequencies: carrier frequency: 10.3% of Egyptian Arabians (6/58) and 1.8% of non-Egyptian Arabians (1/56), USA; three of these six carriers were breeding stallions (Brooks et al., 2010); 7 of 215 European Arabians (Gabreski et al., 2012); 13.3% of 203 South African purebred Arabians of the 2004/5 foal crop and 11.7% of 197 of the 2009/10 crop, attributed to strong Egyptian Arabian influence (Tarr et al., 2014). Over the same period, SCID carrier prevalence fell significantly after its test became available in 2005, while LFS and cerebellar abiotrophy, tested only from 2009 and 2011, showed no change (Tarr et al., 2014). Carrier surveys have also been published from Poland, Egypt and the wider Middle East and North Africa.
      • Clinical / diagnostic notes for veterinarians: affected neonates show seizures, opisthotonus, paddling or stiff limb movements and nystagmus, cannot stand or nurse, and have a dilute coat; pigment is produced but abnormally distributed in the hair shaft. If the coat is overlooked, LFS can be recorded as neonatal maladjustment, sepsis or other neonatal encephalopathy. Gross necropsy is unremarkable, so genotyping of the foal or both parents is the confirmatory test. No immunodeficiency is present, which helps separate LFS from SCID in Arabian foals. Comparative homologues: Griscelli syndrome type 1 (human; hypopigmentation with hypotonia and delayed motor development), dilute lethal mouse, dilute-opisthotonus rat.

      Key references:

      • Brooks SA, Gabreski N, Miller D, Brisbin A, Brown HE, Streeter C, Mezey J, Cook D, Antczak DF (2010). Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for Lavender Foal Syndrome. PLoS Genet 6(4):e1000909. doi:10.1371/journal.pgen.1000909. PMID 20419149.
      • Bierman A, Guthrie AJ, Harper CK (2010). Lavender foal syndrome in Arabian horses is caused by a single-base deletion in the MYO5A gene. Anim Genet 41(Suppl 2):199-201. doi:10.1111/j.1365-2052.2010.02086.x.
      • Gabreski NA, Haase B, Armstrong CD, Distl O, Brooks SA (2012). Investigation of allele frequencies for Lavender foal syndrome in the horse. Anim Genet 43:650. doi:10.1111/j.1365-2052.2011.02305.x.
      • Tarr CJ, Thompson PN, Guthrie AJ, Harper CK (2014). The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa. Equine Vet J 46:512-514. doi:10.1111/evj.12177.
      • AbouEl Ela NH, El Araby IE, Saleh AA, Abd El-Fattah AH, Hagag NM, Brooks SA, Radwan MA, Kalbfleisch T (2023). Evidence for origin of lavender foal syndrome among Egyptian Arabian horses in Egypt. Equine Vet J 55:487-493. doi:10.1111/evj.13604.

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