Disorder-Free 10 Disease Panel
Tests your horse for ten inherited diseases from one sample: SCID, LFS, CA, PSSM1, HYPP, GBED, HERDA, MH, CM and...
€299.00 Incl. VAT
About
This panel checks your horse for ten inherited diseases in one test. Each disease also has its own single test in our shop.
It suits horses of many breeds. Any horse with Arabian, Quarter Horse or Warmblood ancestry has a reason to be tested.
Why test?
Carriers cannot be seen. Only a DNA test finds them before two carriers are mated together.
The horse's own health. Some of these results change how the horse should be cared for.
Buying, selling and registration. One result covers all ten diseases and can be shown at the point of sale or to a studbook.
Mixed or unknown ancestry. Several of these variants have spread into other breeds through crossbreeding. The panel covers them all at once.
Clinical signs
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.
Prevention
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.
Results
You receive a DNA Disorder-Free Lines Certificate with the genotype for each of the ten diseases.
Clear (n/n) for all ten: the horse is certified disorder-free for this panel and cannot pass on any of the ten variants. This does not rule out other inherited or acquired disease.
One copy of a recessive disease: the horse is a carrier and can pass the variant on.
One or two copies of PSSM1, HYPP or MH: the horse is susceptible and can pass the variant on.
Two copies of a recessive disease: the horse is affected. Contact your veterinarian.
Sample
Hair roots: 20 to 40 hairs pulled (not cut) from the mane or tail, with the roots attached. Tape them inside the marked area of the printable sample submission form. Hairs without roots cannot be analysed.
Blood: 5 mL of whole blood in a K3-EDTA tube, collected by a veterinarian. Label the tube with the horse's name and send it with the submission form.
One sample covers all ten tests. Keep samples dry and at room temperature, and do not freeze them. Do not send hair that is wet, mouldy or soiled with bedding or faeces.
Send your sample by regular mail or express delivery to:
Equigerminal Lab HIESE
Rua da Quinta do Sobreiro Nº25
3230-343 Penela, Portugal
Turnaround
Standard processing: results within 5 to 10 working days of the sample arriving at the laboratory. Shipping is arranged and paid for by the client, and transit time is not included in the 5 to 10 working days.
Samples that fail DNA extraction or amplification are repeated at no extra cost, which may add a few working days. We contact you if a new sample is required.
How it works
🛒 Purchase the test: select and buy the test online.
📧 Receive instructions: after payment confirmation you receive sample collection instructions by e-mail.
✨ Collect the sample yourself: pull 20 to 40 hair roots with the bulb attached, or ask your veterinarian to collect blood in a K3-EDTA tube.
📄 Complete the form: print and complete the submission form with the animal identification.
📮 Send it to the laboratory: Equigerminal, S.A., HIESE, Rua da Quinta do Sobreiro, 25, Quinta Vale do Espinhal, 3230-343 Penela, PORTUGAL.
📄 Receive your report: your certified report is issued as soon as the analysis is validated.
FAQs
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.