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Ichthyosis (ICH-2)

Related Terms:

ARCI, Autosomal Recessive Congenital Ichthyosis, GR ICH2

Type: DNA
Sample Types: Cheek brushes/swabs, Fresh EDTA blood, Other
Sample Processing
Cost: $100.00
Species and Breeds:
Canine - Golden Retriever

We do not provide kits. Please collect the sample following the sample collection and shipping instructions before ordering a test.

Clinical Signs:

There are two forms of Ichthyosis in the Golden Retriever. This form (ICH-2; severe) is characterized by severe flaking with large amounts of whitish to brown scales and secondary infections with Malassezia. Weight loss and lethargy are associated with ICH-2. These are often not manageable with medications or baths.

Life Expectancy:

Depends on the severity

Inheritence Mode:

Autosomal recessive

Pathology:

Mild to moderate laminar orthokeratotic hyperkeratosis with an absence of epidermal hyperplasia and dermal inflammation.

Mutation:

ABHD5:c.1006_1019del

Results:

Normal (clear): Normal dogs will not develop ichthyosis type 2 nor will they pass along the defective allele (gene). Carrier (heterozygote): Carriers have one normal and one ichthyosis type 2 mutant gene. Affected: Affected dogs have two copies of the mutant gene and will develop ichthyosis type 2.

Explanation of Results

GenoType PhenoType Interpretation

2-2 (Homozygous Disease Variant)

Unhealthy (Affected)

Homozygous Affecteds (2-2) are expected to develop signs consistent with Ichthyosis (ICH-2) and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.

1-2 (Heterozygous)

Healthy (Carrier)

Heterozygous Carriers (1-2) are not expected to develop signs of Ichthyosis (ICH-2) but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.

1-1 (Homozygous Normal)

Healthy (Normal, Clear)

Homozygous Normals (1-1) are not expected to develop signs of Ichthyosis (ICH-2) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Breeding:

Carriers should only be bred to normal dogs in order not to produce affected dogs.