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Anne

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Health Summary

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Anne inherited one variant that you should learn more about.

And one variant that you should tell your vet about.

Ichthyosis, ICH1

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Anne inherited one copy of the variant we tested

What does this result mean?

This variant should not impact Anne’s health. This variant is inherited in an autosomal recessive manner, meaning that a dog needs two copies of the variant to show signs of this condition. Anne is unlikely to develop this condition due to this variant because she only has one copy of the variant.

Impact on Breeding

Your dog carries this variant and will pass it on to ~50% of her offspring. You can email breeders@embarkvet.com to discuss with a genetic counselor how the genotype results should be applied to a breeding program.

What is Ichthyosis, ICH1?

This skin disorder gets its name from the thick, darkly pigmented scales of skin ("ichthys" is Greek for "fish") that affected dogs display over most areas of the body, not including the head or extremities.

ALT Activity

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Anne inherited both copies of the variant we tested

Why is this important to your vet?

Anne has two copies of a variant in the GPT gene and is likely to have a lower than average baseline ALT activity. ALT is a commonly used measure of liver health on routine veterinary blood chemistry panels. As such, your veterinarian may want to watch for changes in Anne's ALT activity above their current, healthy, ALT activity. As an increase above Anne’s baseline ALT activity could be evidence of liver damage, even if it is within normal limits by standard ALT reference ranges.

What is ALT Activity?

Alanine aminotransferase (ALT) is a clinical tool that can be used by veterinarians to better monitor liver health. This result is not associated with liver disease. ALT is one of several values veterinarians measure on routine blood work to evaluate the liver. It is a naturally occurring enzyme located in liver cells that helps break down protein. When the liver is damaged or inflamed, ALT is released into the bloodstream.

Breed-Relevant Genetic Conditions

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Progressive Retinal Atrophy, prcd (PRCD Exon 1)

Identified in Golden Retrievers

Golden Retriever Progressive Retinal Atrophy 1, GR-PRA1 (SLC4A3)

Identified in Golden Retrievers

Golden Retriever Progressive Retinal Atrophy 2, GR-PRA2 (TTC8)

Identified in Golden Retrievers

Neuronal Ceroid Lipofuscinosis 5, NCL 5 (CLN5 Exon 4 Deletion, Golden Retriever Variant)

Identified in Golden Retrievers

Degenerative Myelopathy, DM (SOD1A)

Identified in Golden Retrievers

Muscular Dystrophy (DMD, Golden Retriever Variant)

Identified in Golden Retrievers

Congenital Myasthenic Syndrome, CMS (COLQ, Golden Retriever Variant)

Identified in Golden Retrievers

Dystrophic Epidermolysis Bullosa (COL7A1, Golden Retriever Variant)

Identified in Golden Retrievers

Osteogenesis Imperfecta (COL1A1, Golden Retriever Variant)

Identified in Golden Retrievers

Retina Dysplasia and/or Optic Nerve Hypoplasia (SIX6 Exon 1, Golden Retriever Variant)

Identified in Golden Retrievers

Additional Genetic Conditions

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