Produktformular

Arvelig Equine Regional Dermal Asthenia - HERDA

Name: Arvelig Equine Regional Dermal Asthenia - HERDA
Brand: Equigerminal
Price: 43.05 EUR

DNA-test for Hereditary Equine Regional Dermal Asthenia (HERDA). Denne test verificerer tilstedeværelsen af det recessive HERDA-gen. Eksempel 30 til 40 -...

€43.05 Inkl. moms

Om testen

This test shows whether your horse carries the gene change behind HERDA, an inherited skin disease. The skin of an affected horse is weak: it stretches, tears and scars, most of all along the back where the saddle sits.

It is meant for Quarter Horses and horses with Quarter Horse lines, such as Paints, Appaloosas and crosses, before breeding or sale.

Hvorfor teste?

Test for HERDA hjælper med at:

Identificere heste, der bærer HERDA-mutationen.
Undgå at parre to bærerheste.
Forhindre fødslen af ramte føl.
Støtte ansvarlige avlsprogrammer.
Bekræfte avlsdyrs genetiske status.

Kliniske tegn

Affected foals rarely show anything at birth. Serious skin damage starts on average at about a year and a half and is usually noticed between 18 and 24 months, often when the horse is first broken to saddle. A knock or a rub can bring it out as early as 6 months, and a few horses show nothing until they are four or five.

Swellings under the skin, filled with fluid or blood, which owners often call blisters. This is the most common first sign.
Loose skin that lifts away easily when pinched and does not spring back
Open wounds, skin that comes away from ordinary contact, and wounds that heal badly
Disfiguring scars, with thin white hairs where the coat grows back
Damage along the back from the withers to the croup, and also over the hindquarters, neck, sides of the chest and belly, lower legs, face, top of the tail and coronary band
The skin damage does not itch and is not painful in itself, but large open areas and blood-filled swellings do hurt and change the horse's behaviour
Heat and sunlight make it worse; several weeks kept in a stable tend to improve it
Ulcers on the surface of the eye, weaker tendons and ligaments in the lower leg and a higher risk of arthritis have also been described
Two affected horses have been reported with a skin cancer that spread through the body

None of these signs is unique to HERDA. Your veterinarian makes the diagnosis, using the history, the examination and this result.

Transmission

HERDA is recessive. A foal needs one copy from the sire and one from the dam to be affected. 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/HERDA gives 50% n/n, 50% n/HERDA
n/n x HERDA/HERDA gives 100% n/HERDA
n/HERDA x n/HERDA gives 25% n/n, 50% n/HERDA, 25% HERDA/HERDA
n/HERDA x HERDA/HERDA gives 50% n/HERDA, 50% HERDA/HERDA
HERDA/HERDA x HERDA/HERDA gives 100% HERDA/HERDA

Forebyggelse

There is no cure, so prevention is a breeding decision.

Breeding. Mate a carrier only with a partner that tested negative, and test every foal. No affected foals are born, though some foals will be carriers. This keeps a valuable line while the variant is bred out. Being a carrier is not by itself a reason to stop breeding a horse.

Managing an affected horse. An affected horse can be kept comfortable, but no treatment restores the skin. Many are put down because they cannot be ridden and should not be bred from. Your veterinarian guides riding, wound care and quality of life.

Resultater

DNA-testen verificerer tilstedeværelsen af det recessive HERDA-gen og præsenterer resultater som et af følgende:

N/- Negativfor HERDA. Fravær af det defekte gen, der er ansvarligt for HERDA.
N/HERDA- Bærer - Positiv heterozygot for HERDA. Tilstedeværelse af én kopi af allelet, der er ansvarligt for HERDA. Hesten er bærer af HERDA og kan videregive en kopi af HERDA-allelet til sit afkom ved avl.
HERDA/ - Positiv homozygot for HERDA. Tilstedeværelse af to kopier af allelet, der er ansvarligt for HERDA. Hesten er ramt af HERDA-lidelsen og kan videregive HERDA-allelet til 100 % af sit afkom ved avl.

Krav til prøver

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

Behandlingstid

2 til 5 arbejdsdage

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

Hvad er HERDA?

HERDA er en arvelig hudsygdom, der forårsager ekstremt sart hud, dårlig sårheling og alvorlig ardannelse hos ramte heste.

Kan bærerheste udvikle sygdommen?

Nej. Bærerheste er klinisk sunde, men kan videregive HERDA-mutationen til cirka 50 % af deres afkom.

Hvilke racer rammes oftest?

HERDA forekommer overvejende hos American Quarter Horses, især hos cutting horse-linjer, selvom beslægtede racer også kan bære mutationen.

Kan HERDA forebygges?

Ja. DNA-testning af avlsdyr og undgåelse af parringer mellem bærere forhindrer fødsel af ramte føl.

Hvornår skal en hest testes?

Enhver hest, der er tiltænkt avl, især Quarter Horses og beslægtede racer, bør testes før parring for at bestemme dens genetiske status.

For Professionals

Genetic and clinical detail for veterinarians, geneticists and laboratories.

Gene / locus: PPIB (peptidylprolyl isomerase B, cyclophilin B), ECA1.
Variant: G39R (Gly39Arg), missense. HGVS (EquCab3.0): NC_009144.3:g.129307092G>A; NM_001099761.1:c.115G>A; NP_001093231.1:p.(Gly39Arg).
Alternative designations: G6R in Ishikawa et al. (2012), counted from a different starting residue of the protein; both names denote the same change. Disease synonyms: hereditary (heritable) equine regional dermal asthenia, hyperelastosis cutis.
Variant identifiers: rs396329681 (EVA); OMIA variant 157.
Variant classification: not currently evaluated (ISAG/AVCG, per OMIA).
Mechanism: isomerase activity preserved, but cyclophilin B protein interactions and collagen folding are altered, so dermal collagen is abnormal (Ishikawa et al., 2012).
Inheritance: autosomal recessive (OMIA code R; Tryon et al., 2005). Generally attributed to a founder effect.
Breeds with documented carriers or cases: Quarter Horse (OMIA variant record); affected American Paint Horses and Appaloosas also reported, both registries with Quarter Horse ancestry. Of 58 affected horses, 52 Quarter Horses, 4 Paints, 2 Appaloosas (Tryon et al., 2005); of 50 affected horses, 43 Quarter Horses, 1 Quarter Horse cross, 4 Paints, 2 Appaloosas (White et al., 2004).
Allele / carrier frequencies: carrier frequency 3.5% (38 of 1,079 unaffected control Quarter Horses; Tryon et al., 2007). Carrier frequency by discipline about 28% in cutting, 12.8% in western pleasure and 11.5% in working cow horses, and 1.7% in American Paint Horses (Rashmir-Raven, 2013). Carrier frequency 1.6% (2 of 125 Quarter Horses in France, both mares; White and Bourdeau, 2011). Allele frequency 13.5% in elite cutting Quarter Horses, with no change over time in the random cohort (Brown et al., 2026; 300 performance and 300 random horses born 2020 to 2024). Carrier and allele frequencies are not interchangeable; for a rare recessive the allele figure is roughly half the carrier figure.
Clinical / diagnostic notes for veterinarians: age at first owner observation ranged from birth to four years in the White et al. (2004) series. None of those 50 horses had joint hyperlaxity or visceral involvement; later work describes joint laxity at birth in some foals, and viscera were normal in the foal and dam followed by White et al. (2007). Corneal thinning has been described. One adult HERDA/HERDA horse was reported working normally with mild signs (Patterson Rosa et al., 2021), so genotype does not predict severity. Skin biopsy is a separate procedure; histopathology is suggestive but not diagnostic, and suspected cases should be confirmed by genotyping. Fragile-skin disease not caused by this variant occurs, including in a Quarter Horse gelding (Steelman et al., 2013).

Key references:

Tryon RC, White SD, Bannasch DL (2007). Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse. Genomics 90:93-102. doi:10.1016/j.ygeno.2007.03.009. PMID 17498917.
Tryon RC, White SD, Famula TR, Schultheiss PC, Hamar DW, Bannasch DL (2005). Inheritance of hereditary equine regional dermal asthenia in Quarter Horses. Am J Vet Res 66:437-442. doi:10.2460/ajvr.2005.66.437.
White SD, Affolter VK, Bannasch DL, Schultheiss PC, Hamar DW, Chapman PL, et al. (2004). Hereditary equine regional dermal asthenia (hyperelastosis cutis) in 50 horses: clinical, histological, immunohistological and ultrastructural findings. Vet Dermatol 15:207-217. doi:10.1111/j.1365-3164.2004.00402.x.
Ishikawa Y, Vranka JA, Boudko SP, et al. (2012). Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding. J Biol Chem 287:22253-22265. doi:10.1074/jbc.M111.333336.
White SD, Bourdeau P (2011). Prevalence of the mutation in cyclophilin B (PPIB), a causal candidate gene for HERDA, among Quarter Horses in France. Vet Dermatol 22:206-208. doi:10.1111/j.1365-3164.2010.00941.x.
Rashmir-Raven A (2013). Heritable equine regional dermal asthenia. Vet Clin North Am Equine Pract 29:689-702. doi:10.1016/j.cveq.2013.09.001.
Brown BN, Hughes S, Le TM, Tatar NP, Grahn JC, Carrillo-Alvarez M, Bellone RR, Finno CJ (2026). Allele frequencies of 7 inherited disorders in performance and random cohorts of American Quarter Horses (2020-2024). J Am Vet Med Assoc 1-7. doi:10.2460/javma.26.04.0256.