Forma del producto

Perfil de trastornos genéticos

Name: Perfil de trastornos genéticos
Brand: Equigerminal
Price: 299.0 EUR

Panel de pruebas de ADN para 10 trastornos genéticos: SCID, LFS, CA, PSSM1, HYPP, GBED, HERDA, MH, CM, WFFS. Muestra 30 a...

€299.00 IVA incluido

Acerca de la prueba

Asegúrate de que el linaje de tu caballo esté libre de trastornos genéticos con nuestro completo panel de pruebas de ADN. Certifica a tu caballo contra 10 trastornos genéticos: SCID, LFS, CA, PSSM1, HYPP, GBED, HERDA, MH, CM, WFFS.

¿Por qué probar?

Nuestra prueba de Líneas Certificadas Libres de Trastornos Genéticos ayuda a criadores, compradores y certificadores de libros genealógicos a asegurar que los caballos estén libres de trastornos genéticos. Esto garantiza caballos más saludables, decisiones de cría informadas y mayor tranquilidad.

Signos clínicos

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.

Transmisión

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.

Prevención

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.

Resultados

Un Certificado de Líneas Libres de Trastornos Genéticos se emite, informando el estado genético del caballo para los siguientes trastornos: SCID, LFS, CA, PSSM1, HYPP, GBED, HERDA, MH, CM, WFFS.

Requisitos de muestra

30 a 40 raíces de cabello (deben incluir el bulbo de la raíz) o 5 mL de sangre en un tubo K3 EDTA.

Envía tu muestra por correo ordinario o entrega exprés a:

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

Tiempo de entrega

Procesamiento estándar – Resulta en 5 a 10 días hábiles después de la llegada de la muestra al laboratorio.

Cómo funciona

✨ Compra la Prueba: Selecciona y compra la prueba de ADN en línea.

📄 Recibe Instrucciones: Tras la confirmación del pago, recibe instrucciones para la recolección de raíces de cabello y un formulario de envío imprimible.

✂️ Recolecta Raíces de Cabello: Arranca las raíces del cabello, pégalas con cinta en el formulario de envío y colócalo en un sobre o bolsa plástica sellada.

📬 Envía las Muestras: Envía a nuestro laboratorio por correo ordinario o entrega exprés a:

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

📧 Recibe Resultados: Recibe el certificado de resultados por correo electrónico. Si necesitas ayuda, contáctanos en support@equigerminal.pt.

♻️ Nota: No se necesita kit de recolección, lo que mejora la sostenibilidad al reducir residuos y el uso de plástico.

Preguntas frecuentes

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 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.