Forma del prodotto

LFS Sindrome del puledro lavanda

Name: LFS Sindrome del puledro lavanda
Brand: Equigerminal
Price: 43.05 EUR

Test del DNA per la Lavender Foal Syndrome (LFS) – cavalli arabi puri e meticci. Questo Il test verifica la presenza...

€43.05 incl. I.V.A.

Informazioni sul test

Questo test del DNA verifica la presenza della Sindrome del Puledro Lavanda (LFS) variante genetica.

LFS è un disturbo genetico autosomico recessivo principalmente riscontrato in cavalli arabi purosangue e meticci arabi.

Perché testare?

Questo test genetico aiuta gli allevatori a identificare i cavalli che sono sani, portatori o affetti dalla Sindrome del Puledro Lavanda.

Il test supporta decisioni di allevamento informate, aiutando a prevenire la nascita di puledri affetti.

Il test è particolarmente raccomandato per cavalli Arabi Puri e Meticci o cavalli con ascendenza araba.

Segni clinici

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.

Trasmissione

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

Prevenzione

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.

Risultati

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

N/– Non portatore del gene LFS. Testato negativo per il gene LFS.
N/LFS - Eterozigote cavallo per LFS, sono stati rilevati sia l'allele normale che quello LFS. Il cavallo è portatore del disturbo genetico LFS e c'è una probabilità del 50% che trasmetta un allele LFS alla sua prole
LFS/ – Omozigote cavallo per LFS, portatore di due copie del gene LFS. Il cavallo è affetto dal disturbo genetico LFS.

Requisiti di esempio

30 a 40 - radici dei capelli - busta o 5 mL - sangue - tubo K3 EDTA

Tempi di consegna

Da 2 a 5 giorni lavorativi

Come funziona

🛒 Acquista il test: seleziona e acquista il test online.

📧 Ricevi le istruzioni: dopo la conferma del pagamento, ricevi via e-mail le istruzioni per il prelievo del campione.

📄 Compila il modulo: stampa e compila il modulo di invio campioni con l’identificazione dell’animale.

✨ Raccogli il campione: strappa da 20 a 40 radici di pelo con il bulbo e incollale nell’area indicata del modulo, oppure chiedi al tuo veterinario di prelevare il sangue in una provetta K3-EDTA.

📮 Invialo al laboratorio: Equigerminal, S.A., HIESE, Rua da Quinta do Sobreiro, 25, Quinta Vale do Espinhal, 3230-343 Penela, PORTUGAL.

📊 Ricevi il referto: il referto certificato viene emesso non appena l’analisi è convalidata.

Domande frequenti

Quali campioni possono essere inviati?

Il test può essere eseguito utilizzando 30–40 radici di capelli o 5 mL di sangue raccolto in una provetta K3 EDTA.

Quali cavalli dovrebbero essere testati?

Il test è consigliato per cavalli Arabi purosangue e meticci, cavalli con ascendenza araba e animali da riproduzione con pedigree incerto.

Cosa significano i risultati?

N/N: Il cavallo è privo della mutazione LFS.
N/LFS: Il cavallo è un portatore sano e può trasmettere la mutazione al 50% della sua prole.
LFS/LFS: Il cavallo è geneticamente affetto dalla Sindrome del Puledro Lavanda.

I cavalli portatori possono sviluppare la malattia?

No. I cavalli portatori (N/LFS) sono clinicamente normali ma possono trasmettere la mutazione alla loro prole.

Quanto tempo ci vuole per ricevere i risultati?

I risultati sono disponibili entro 2 a 5 giorni lavorativi dall'arrivo del campione in laboratorio.

For 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.