Dobby inherited one copy of the variant we tested
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“He is named after the house elf on Harry Potter and likes socks :)”
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Registration
Goldendoodle Association of North America
(GANA):
GANA-007827
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Health Summary
Dobby inherited one variant that you should learn more about.
And one variant that you should tell your vet about.
Osteochondrodysplasia
What does this result mean?
This variant should not impact Dobby’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. Dobby is unlikely to develop this condition due to this variant because he only has one copy of the variant.
Impact on Breeding
Your dog carries this variant and will pass it on to ~50% of his 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 Osteochondrodysplasia?
As a fetus, most of the bones of the body actually start as cartilage models of themselves. Over time, the cartilage is replaced with the bones that you (and your dog) are born with. Dogs affected with osteochondrodysplasia have a mutation in the SLC13A1 gene, which codes for a protein that transports minerals into the developing bone. Defects in this gene disrupt the cartilage to bone transition, leading to inappropriate skeletal development.
ALT Activity
Dobby inherited one copy of the variant we tested
Why is this important to your vet?
Dobby has one copy of a variant associated with reduced ALT activity as measured on veterinary blood chemistry panels. Please inform your veterinarian that Dobby has this genotype, as ALT is often used as an indicator of liver health and Dobby is likely to have a lower than average resting ALT activity. As such, an increase in Dobby’s 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
Von Willebrand Disease Type I, Type I vWD (VWF)
Identified in Standard Poodles and Small Poodles
Variant not detected
Progressive Retinal Atrophy, prcd (PRCD Exon 1)
Identified in Golden Retrievers, Standard Poodles, and more
Variant not detected
Golden Retriever Progressive Retinal Atrophy 1, GR-PRA1 (SLC4A3)
Identified in Golden Retrievers
Variant not detected
Golden Retriever Progressive Retinal Atrophy 2, GR-PRA2 (TTC8)
Identified in Golden Retrievers
Variant not detected
Neuronal Ceroid Lipofuscinosis 5, NCL 5 (CLN5 Exon 4 Deletion, Golden Retriever Variant)
Identified in Golden Retrievers
Variant not detected
GM2 Gangliosidosis (HEXB, Poodle Variant)
Identified in Standard Poodles and Small Poodles
Variant not detected
Degenerative Myelopathy, DM (SOD1A)
Identified in Golden Retrievers and Standard Poodles
Variant not detected
Neonatal Encephalopathy with Seizures, NEWS (ATF2)
Identified in Standard Poodles and Small Poodles
Variant not detected
Muscular Dystrophy (DMD, Golden Retriever Variant)
Identified in Golden Retrievers
Variant not detected
Dystrophic Epidermolysis Bullosa (COL7A1, Golden Retriever Variant)
Identified in Golden Retrievers
Variant not detected
Ichthyosis, ICH1 (PNPLA1, Golden Retriever Variant)
Identified in Golden Retrievers
Variant not detected
Osteogenesis Imperfecta (COL1A1, Golden Retriever Variant)
Identified in Golden Retrievers
Variant not detected
Intervertebral Disc Disease (Type I) (FGF4 retrogene - CFA12)
Identified in Standard Poodles and Small Poodles
Variant not detected