DNA & genetic tests

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60.5

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50

ACAN dwarfism / chondrodysplasia (5 variants) - Horse

DNA panel for five ACAN variants that cause ACAN-related dwarfism, chondrodysplasia or skeletal dysplasia in horses.

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Turnaround time

10 workdays

test Methods

Sequencing

Test code

PVT-63E2C63F1C0F

Species

Horse

Breeds

Miniature Horse, Quarter Horse, Shetland Pony, Warmblood

Matrices

Blood, Blood (EDTA), Blood (Heparin), Swab, Tissue

Overview

What does this test examine?

This genetic panel test examines five ACAN variants used in horses for ACAN-related dwarfism, chondrodysplasia, skeletal dysplasia and related forms of disproportionate dwarfism. The panel includes D1, D2, D3*, D4 and D5.

What does ACAN dwarfism mean?

The ACAN gene encodes aggrecan, an important component of cartilage. Variants in this gene can disrupt normal cartilage and bone development. Affected foals can show abnormal skeletal development, including short limbs, limb deformities, head or jaw abnormalities, a short neck, abnormal rib cage, breathing problems or reduced viability. Severity depends on the variant or combination of variants involved.

Practical value of this test

The panel tests five relevant ACAN variants in one analysis.
The result helps identify carriers before breeding decisions are made.
Breeders can avoid matings in which a foal may inherit two relevant ACAN variants.
The test is useful in breeds and lines where ACAN dwarfism has been described, including Miniature Horse, Shetland Pony, Quarter Horse and Warmblood lines.
When disproportionate dwarfism is suspected clinically, the test provides targeted genetic clarity.

Inheritance and interpretation

ACAN-related dwarfism is interpreted in this panel as autosomal recessive. An animal with one relevant variant is a carrier. An animal with two relevant ACAN variants can develop ACAN-related dwarfism or chondrodysplasia. For panel results, the combined result across all ACAN subanalyses is especially important, because two different variants together can also produce an affected result.

Included subanalyses

This analysis includes the following subanalyses:

ACAN dwarfism D1 (c.245del) - Horse
ACAN dwarfism D2 (c.1270C>T) - Horse
ACAN dwarfism D3* (c.5054C>G) - Horse
ACAN dwarfism D4 (c.7633_7653del) - Horse
ACAN dwarfism D5 (c.7435G>A) - Horse

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.

ACAN D1 result

Genotype / allele combination: Clear genotype (N/N)

The ACAN D1 variant was not detected. This horse does not pass this specific variant to offspring.

Genotype / allele combination: Carrier (N/del)

This horse carries one copy of the ACAN D1 variant. The animal can pass this variant on; when combined with a second relevant ACAN variant, a foal can develop ACAN-related dwarfism.

Genotype / allele combination: Two copies (del/del)

This horse has two copies of the ACAN D1 variant. This result causes ACAN-related dwarfism or chondrodysplasia and is highly important for breeding selection and evaluation of skeletal development.

ACAN D2 result

Genotype / allele combination: Clear genotype (CC)

The ACAN D2 variant was not detected. This horse does not pass this specific variant to offspring.

Genotype / allele combination: Carrier (CT)

This horse carries one copy of the ACAN D2 variant. The animal can pass this variant on; when combined with a second relevant ACAN variant, a foal can develop ACAN-related dwarfism.

Genotype / allele combination: Two copies (TT)

This horse has two copies of the ACAN D2 variant. This result causes ACAN-related dwarfism or chondrodysplasia and is highly important for breeding selection and evaluation of skeletal development.

ACAN D3* result

Genotype / allele combination: Clear genotype (CC)

The ACAN D3* variant was not detected. This horse does not pass this specific variant to offspring.

Genotype / allele combination: Carrier (CG)

This horse carries one copy of the ACAN D3* variant. The animal can pass this variant on; when combined with a second relevant ACAN variant, a foal can develop ACAN-related dwarfism.

Genotype / allele combination: Two copies (GG)

This horse has two copies of the ACAN D3* variant. This result causes ACAN-related dwarfism or chondrodysplasia and is highly important for breeding selection and evaluation of skeletal development.

ACAN D4 result

Genotype / allele combination: Clear genotype (N/N)

The ACAN D4 variant was not detected. This horse does not pass this specific variant to offspring.

Genotype / allele combination: Carrier (N/del)

This horse carries one copy of the ACAN D4 variant. The animal can pass this variant on; when combined with a second relevant ACAN variant, a foal can develop ACAN-related dwarfism.

Genotype / allele combination: Two copies (del/del)

This horse has two copies of the ACAN D4 variant. This result causes ACAN-related dwarfism or chondrodysplasia and is highly important for breeding selection and evaluation of skeletal development.

ACAN D5 result

Genotype / allele combination: Clear genotype (GG)

The ACAN D5 variant was not detected. This horse does not pass this specific variant to offspring.

Genotype / allele combination: Carrier (GA)

This horse carries one copy of the ACAN D5 variant. The animal can pass this variant on; when combined with a second relevant ACAN variant, a foal can develop ACAN-related dwarfism.

Genotype / allele combination: Two copies (AA)

This horse has two copies of the ACAN D5 variant. This result causes ACAN-related dwarfism or chondrodysplasia and is highly important for breeding selection and evaluation of skeletal development.

References