Produktformular

Polysaccharid Storage Myopati Type 2 - PSSM2 6 Variant Panel

Name: Polysaccharid Storage Myopati Type 2 - PSSM2 6 Variant Panel
Brand: Generatio
Price: 2724.0 DKK

Equine myopati (PSSM2) er en samlebetegnelse for en række relaterede muskellidelser med lignende kliniske symptomer. Typiske symptomer omfatter modvilje mod...

2.724,00 kr Inkl. moms

Om testen

This panel reads six DNA variants that are sold commercially as markers of Muscle Integrity Myopathy (MIM), formerly called PSSM2. Their link to muscle disease has not been confirmed by independent research.

It is for owners who want to know, or need to show, which of these variants a horse carries.

Hvorfor teste?

Dette DNA-panel hjælper med at:

Identificere heste, der bærer genetiske varianter associeret med MIM.
Støtte avlsbeslutninger.
Undersøge uforklarlig muskelsmerte, stivhed eller dårlig atletisk præstation.
Assistere dyrlæger med at udvikle passende ernærings- og træningsplaner.
Reducere risikoen for at producere genetisk disponeret afkom.

Kliniske tegn

PSSM2 is the name given to horses whose muscle biopsy shows abnormal sugar storage but who do not carry the PSSM1 variant. Its causes are still unknown. Myofibrillar myopathy (MFM) is a related diagnosis, also made on biopsy.

In Warmbloods diagnosed with PSSM2 by biopsy, problems usually began around 6 years of age. More than half showed:

A decline in performance
Reluctance to collect
Reluctance to go forward

None of these signs is specific. Pain, lameness, back problems, other muscle diseases and management can all cause them.

Transmission

Each variant is passed on like any other piece of DNA: a horse with one copy gives it to about half of its foals, and a horse with two copies gives it to all of them.

There is no established pattern of inheritance for disease, so we give no mating risks for this panel.

Forebyggelse

Breeding. Do not select horses for or against these variants.

A horse with muscle problems. Diagnosis and management belong to your veterinarian. Do not change diet or work on the strength of this panel alone. In Warmbloods with PSSM2 confirmed by biopsy, 80% of owners reported overall improvement on the recommended diet and exercise programme.

Resultater

DNA-testen identificerer seks genetiske varianter, der disponerer heste for at udvikle symptomer på muskelintegritetsmyopati (MIM):

P2:Myotilinopati
P3:Filaminopati
P4:Myozenin-3-myopati
P8:PYROXD1-myopati
Px:CACNA2D3-myopati
K1:COL6A3-myopati

Krav til prøver

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

Behandlingstid

Op til 15 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

Hvilke prøver kan indsendes?

Testen kan udføres ved brug af30-40 hårrøddereller 5 mL blod opsamlet i et K3 EDTA-rør.

Hvad er Muscle Integrity Myopathy (MIM)?

MIM er en gruppe af arvelige muskelsygdomme, der er forbundet med flere genetiske varianter, som kan påvirke muskelstruktur, ydeevne og restitution.

Hvilke heste bør testes?

Test anbefales til heste med uforklarlige muskelsygdomme, dårlig ydeevne, tilbagevendende muskelsmerter eller til avlsdyr.

Kan MIM kureres?

Der findes i øjeblikket ingen kur. Men passende ernæring, træningsstyring og veterinær overvågning kan hjælpe med at reducere kliniske tegn og forbedre livskvaliteten.

Hvor lang tid tager det at modtage resultaterne?

Resultaterne er tilgængelige inden for15 arbejdsdageefter prøvens ankomst til laboratoriet.

For Professionals

Genetic and clinical detail for veterinarians, geneticists and laboratories.

Loci genotyped (gene, commercial variant name, inheritance). None has an OMIA entry, an ISAG/AVCG classification, a peer-reviewed discovery publication or a published HGVS description in our sources.

MYOT: P2; no established mode of inheritance; not associated with biopsy diagnosis (Valberg et al., 2021; 2023).
FLNC: P3 (research papers test two FLNC changes, P3a and P3b); no established mode of inheritance; not associated with biopsy diagnosis (Valberg et al., 2021; 2023).
MYOZ3: P4; no established mode of inheritance; not associated with biopsy diagnosis (Valberg et al., 2021; 2023).
PYROXD1: P8; no published horse study found.
CACNA2D3: Px; no published horse study found.
COL6A3: K1; no published horse study found.

Independent validation: Warmbloods (54 controls, 68 biopsy-diagnosed) and Arabians (30 controls, 30 biopsy-diagnosed): no P variant associated with diagnosis; sensitivity below one in three for every variant (Valberg et al., 2021). Quarter Horses (229 controls, 163 with PSSM2 on biopsy): P2, P3 and P4 not associated; 57% of controls and 61% of cases carried at least one of them, so using them would have labelled those controls positive and missed 40% of cases (Valberg et al., 2023). The 2021 authors concluded that these tests should not be used for selection, breeding, pre-purchase examination or diagnosis.
Distribution: P variants were also found in ancient horses 400 to 5,500 years old, and P2 in the Przewalski's horse (Valberg et al., 2021).
Nomenclature note for veterinarians: MIM (Muscle Integrity Myopathy) is a commercial panel name; we found no scientific definition of MIM as a disease.

Key references:

Valberg SJ, et al. (2021). Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis. Equine Vet J. doi:10.1111/evj.13345.
Valberg SJ, et al. (2023). Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests. Equine Vet J. doi:10.1111/evj.13574.