Produktformular

Genetiske lidelser profil

Name: Genetiske lidelser profil
Brand: Equigerminal
Price: 2280.0 DKK

DNA-testpanel for 10 genetiske lidelser: SCID, LFS, CA, PSSM1, HYPP, GBED, HERDA, MH, CM, WFFS. Eksempel 30 til 40 hårrødder eller 5...

2.280,00 kr Inkl. moms

Om testen

Sørg for, at din hests slægtslinje er fri for genetiske lidelser med vores omfattende DNA-testpanel. Certificer din hest mod 10 genetiske lidelser: SCID, LFS, CA, PSSM1, HYPP, GBED, HERDA, MH, CM, WFFS.

Hvorfor teste?

Vores test for DNA-betingede sygdomsfri linjer hjælper avlere, købere og stambogsmyndigheder med at sikre, at heste er fri for genetiske sygdomme. Dette garanter garanterer sundere heste, informerede avlsbeslutninger og øget tryghed.

Kliniske tegn

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.

Transmission

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.

Forebyggelse

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.

Resultater

Et DNA Disorder-Free Lines Certificate(DNA-certifikat for sygdomsfrie linjer) udstedes, som rapporterer hestens genetiske status for følgende lidelser: SCID, LFS, CA, PSSM1, HYPP, GBED, HERDA, MH, CM, WFFS.

Krav til prøver

30 til 40 hårrødder (skal inkludere hårløget)eller5 ml blod i et K3 EDTA-rør.

Behandlingstid

Standardbehandling– Resultater inden for 5 til 10 arbejdsdageefter prøvens ankomst til laboratoriet.

Sådan 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 spørgsmål

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.