Turnaround time
10 workdays
48.4
40
DNA test for the PPIB c.115G>A variant that causes HERDA, also called hereditary equine regional dermal asthenia or hyperelastosis cutis, in horses.
Overview
This genetic test examines the PPIB c.115G>A variant in horses. The condition is known as HERDA, hereditary equine regional dermal asthenia, hyperelastosis cutis and collagen-related skin fragility.
PPIB is involved in normal collagen folding and structure. Horses with two copies of the variant develop skin that is too stretchy and fragile. The skin can tear easily, especially over the back, withers and saddle area. Wounds often heal slowly and scarring can be marked. The condition often becomes obvious when young horses enter training or are started under saddle.
HERDA is inherited as an autosomal recessive trait. Carriers have one copy and generally do not develop the condition; horses with two copies develop HERDA.
Included subanalyses
This analysis includes the following subanalysis:
Allele combinations & result interpretations
Below, for each tested locus, you will find the possible allele combinations that may be reported within this analysis, together with a brief explanation of their genetic meaning. The interpretation of possible interactions between different loci is included in the report, but is not shown here in full because that would lead to too many combinations on this page. The final expression may also depend on other genes and their interaction.
Genotype / allele combination: Clear / normal genotype (N/N)
The tested PPIB variant was not detected. This horse will not pass this specific variant to offspring.
Genotype / allele combination: Carrier (N/HRD)
The horse carries one copy of the tested PPIB variant. Carriers generally do not develop this recessive disorder themselves, but can pass the variant on; two carriers together can produce affected foals.
Genotype / allele combination: Genetically affected (HRD/HRD)
The horse has two copies of the tested PPIB variant. This genotype causes HERDA. This causes fragile, overly stretchy skin with increased risk of tearing and slow wound healing.
Sampling and submission guidelines







References