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Idiopathic Hypocalcemia (IH) / Equine familial isolated hypoparathyroidism (EFIH)
Test number: 8696
Gene: EFIH
Price: £ 48.00 (including VAT)
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The Disease |
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Equine familial isolated hypoparathyroidism (EFIH), which is also known as Idiopathic Hypocalcemia (IH), causes tetany (intermittent muscular spasms) and seizures in Thoroughbred foals. Clinical symptoms may also include a stiff gait and excessive recumbency (laying down). Blood chemistry reveals deficiency calcium, typically high phosphorus, and low or normal parathyroid hormone (PTH) concentrations, indicative of functional hypoparathyroidism. EFIH is invariably fatal: affected foals die or are euthanized due to poor prognosis and/or complications.
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Trait of Inheritance |
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Recessive trait of inheritance
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The horse is noncarrier of the mutant gene.
It is very unlikely that the horse will develop Idiopathic Hypocalcemia (IH) / Equine familial isolated hypoparathyroidism (EFIH). The horse will never pass the mutation to its offspring, and therefore it can be bred to any other horse.
Carrier
Genotype: N / EFIH [ Heterozygous ]
The horse carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the horse will develop Idiopathic Hypocalcemia (IH) / Equine familial isolated hypoparathyroidism (EFIH) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%. Carriers should only be bred to clear horses. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: EFIH / EFIH [ Homozygous mutant ]
The horse carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
affected foals die or are euthanized due to poor prognosis and/or complications.
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Sample Requirements |
Hair Sample from mane with roots (approx 30 hairs) or 1 ml whole blood in EDTA tube.
How to obtain a viable hair sample
Pull around 30 hairs from the mane of the horse with the roots (in faols hair from the tail maybe taken). Wrap the hairs around your finger or a comb, as close as possible to the skin to ensure you obtain the hair roots. Keep dry, put in a bag, label the bag with the horse name, test (s) required. Place in an envelope and send back to us together with the order form. Broken or cut off hair will not be accepted.
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Price
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£ 48.00 (including VAT)
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| See also: |
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