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Shadoe

Veterinary Report by Embark

embarkvet.com

Test Date: January 18th, 2018

Customer-supplied information

Owner Name: Jen Blausey
Dog Name: Shadoe
Sex: Female (fixed)
Date of birth: 01/01/12 (Estimated)

Breed type: purebred
Breed: Australian Cattle dog Blue Heeler
Breed registration: N/A
Microchip: N/A

Genetic summary

Genetic breed identification:
Australian Cattle Dog

Breed mix:

Australian Cattle Dog: 100.0%

Predicted adult weight: 29 lbs

Calculated from 17 size genes.

Life stage: Geriatric

Based on date of birth provided.

Health Report

How to interpret Shadoe’s genetic health results:

If Shadoe inherited any of the variants that we tested, they will be listed at the top of the Health Report section, along with a description of how to interpret this result. We also include all of the variants that we tested Shadoe for that we did not detect the risk variant for.

A genetic test is not a diagnosis

This genetic test does not diagnose a disease. Please talk to your vet about your dog’s genetic results, or if you think that your pet may have a health condition or disease.

Summary

Of the 168 genetic health risks we analyzed, we found 3 results that you should learn about.

Increased risk results

(1)

Primary Lens Luxation

Notable results

(2)

ALT Activity

Progressive Retinal Atrophy, prcd

Clear results

Breed-relevant

(6)

Other

(159)

Health Report

Breed-relevant Results

Research studies indicate that these results are more relevant to dogs like Shadoe, and may influence her chances of developing certain health conditions.

Primary Lens Luxation (ADAMTS17)

Increased risk

Progressive Retinal Atrophy, prcd (PRCD Exon 1)

Notable

Collie Eye Anomaly (NHEJ1)

Clear

Cystinuria Type II-A (SLC3A1, Australian Cattle Dog Variant)

Clear

Multiple Drug Sensitivity (ABCB1)

Clear

Myotonia Congenita (CLCN1 Exon 23, Australian Cattle Dog Variant)

Clear

Neuronal Ceroid Lipofuscinosis 5, NCL 5 (CLN5 Exon 4 SNP, Border Collie Variant)

Clear

Neuronal Ceroid Lipofuscinosis 8, NCL 8 (CLN8, Australian Shepherd Variant)

Clear

Health Report

Other Results

Research has not yet linked these conditions to dogs with similar breeds to Shadoe. Review any increased risk or notable results to understand her potential risk and recommendations.

ALT Activity (GPT)

Notable

2-DHA Kidney & Bladder Stones (APRT)

Clear

Acral Mutilation Syndrome (GDNF-AS, Spaniel and Pointer Variant)

Clear

Adult-Onset Neuronal Ceroid Lipofuscinosis, NCL A, NCL 12 (ATP13A2, Tibetan Terrier Variant)

Clear

Alaskan Husky Encephalopathy (SLC19A3)

Clear

Alaskan Malamute Polyneuropathy, AMPN (NDRG1 SNP)

Clear

Alexander Disease (GFAP)

Clear

Anhidrotic Ectodermal Dysplasia (EDA Intron 8)

Clear

Autosomal Dominant Progressive Retinal Atrophy (RHO)

Clear

Canine Elliptocytosis (SPTB Exon 30)

Clear

Canine Fucosidosis (FUCA1)

Clear

Canine Leukocyte Adhesion Deficiency Type III, CLAD III (FERMT3, German Shepherd Variant)

Clear

Canine Multifocal Retinopathy, cmr1 (BEST1 Exon 2)

Clear

Canine Multifocal Retinopathy, cmr2 (BEST1 Exon 5, Coton de Tulear Variant)

Clear

Canine Multifocal Retinopathy, cmr3 (BEST1 Exon 10 Deletion, Finnish and Swedish Lapphund, Lapponian Herder Variant)

Clear

Canine Multiple System Degeneration (SERAC1 Exon 4, Chinese Crested Variant)

Clear

Canine Multiple System Degeneration (SERAC1 Exon 15, Kerry Blue Terrier Variant)

Clear

Centronuclear Myopathy, CNM (PTPLA)

Clear

Health Report

Other Results

Cerebellar Hypoplasia (VLDLR, Eurasier Variant)

Clear

Chondrodystrophy (ITGA10, Norwegian Elkhound and Karelian Bear Dog Variant)

Clear

Cleft Lip and/or Cleft Palate (ADAMTS20, Nova Scotia Duck Tolling Retriever Variant)

Clear

Cobalamin Malabsorption (CUBN Exon 8, Beagle Variant)

Clear

Cobalamin Malabsorption (CUBN Exon 53, Border Collie Variant)

Clear

Complement 3 Deficiency, C3 Deficiency (C3)

Clear

Congenital Hypothyroidism (TPO, Tenterfield Terrier Variant)

Clear

Congenital Macrothrombocytopenia (TUBB1 Exon 1, Cairn and Norfolk Terrier Variant)

Clear

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

Clear

Congenital Myasthenic Syndrome, CMS (CHAT, Old Danish Pointing Dog Variant)

Clear

Congenital Stationary Night Blindness (RPE65, Briard Variant)

Clear

Craniomandibular Osteopathy, CMO (SLC37A2)

Clear

Cystinuria Type I-A (SLC3A1, Newfoundland Variant)

Clear

Cystinuria Type II-B (SLC7A9, Miniature Pinscher Variant)

Clear

Day Blindness (CNGA3 Exon 7, German Shepherd Variant)

Clear

Day Blindness (CNGA3 Exon 7, Labrador Retriever Variant)

Clear

Day Blindness (CNGB3 Exon 6, German Shorthaired Pointer Variant)

Clear

Degenerative Myelopathy, DM (SOD1A)

Clear

Health Report

Other Results

Dilated Cardiomyopathy, DCM1 (PDK4, Doberman Pinscher Variant 1)

Clear

Dilated Cardiomyopathy, DCM2 (TTN, Doberman Pinscher Variant 2)

Clear

Dry Eye Curly Coat Syndrome (FAM83H Exon 5)

Clear

Dystrophic Epidermolysis Bullosa (COL7A1, Golden Retriever Variant)

Clear

Early Onset Cerebellar Ataxia (SEL1L, Finnish Hound Variant)

Clear

Enamel Hypoplasia (ENAM Deletion, Italian Greyhound Variant)

Clear

Episodic Falling Syndrome (BCAN)

Clear

Exercise-Induced Collapse, EIC (DNM1)

Clear

Factor VII Deficiency (F7 Exon 5)

Clear

Familial Nephropathy (COL4A4 Exon 3, Cocker Spaniel Variant)

Clear

Fetal-Onset Neonatal Neuroaxonal Dystrophy (MFN2, Giant Schnauzer Variant)

Clear

Glanzmann's Thrombasthenia Type I (ITGA2B Exon 13, Great Pyrenees Variant)

Clear

Glanzmann's Thrombasthenia Type I (ITGA2B Exon 12, Otterhound Variant)

Clear

Globoid Cell Leukodystrophy, Krabbe disease (GALC Exon 5, Terrier Variant)

Clear

Glycogen Storage Disease Type IA, Von Gierke Disease, GSD IA (G6PC, Maltese Variant)

Clear

Glycogen Storage Disease Type IIIA, GSD IIIA (AGL, Curly Coated Retriever Variant)

Clear

Glycogen storage disease Type VII, Phosphofructokinase Deficiency, PFK Deficiency (PFKM, Whippet and English Springer Spaniel Variant)

Clear

Glycogen storage disease Type VII, Phosphofructokinase Deficiency, PFK Deficiency (PFKM, Wachtelhund Variant)

Clear

Health Report

Other Results

GM1 Gangliosidosis (GLB1 Exon 2, Portuguese Water Dog Variant)

Clear

GM1 Gangliosidosis (GLB1 Exon 15, Shiba Inu Variant)

Clear

GM1 Gangliosidosis (GLB1 Exon 15, Alaskan Husky Variant)

Clear

GM2 Gangliosidosis (HEXA, Japanese Chin Variant)

Clear

GM2 Gangliosidosis (HEXB, Poodle Variant)

Clear

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

Clear

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

Clear

Hemophilia A (F8 Exon 11, German Shepherd Variant 1)

Clear

Hemophilia A (F8 Exon 1, German Shepherd Variant 2)

Clear

Hemophilia A (F8 Exon 10, Boxer Variant)

Clear

Hemophilia B (F9 Exon 7, Terrier Variant)

Clear

Hemophilia B (F9 Exon 7, Rhodesian Ridgeback Variant)

Clear

Hereditary Ataxia, Cerebellar Degeneration (RAB24, Old English Sheepdog and Gordon Setter Variant)

Clear

Hereditary Cataracts (HSF4 Exon 9, Boston Terrier Variant)

Clear

Hereditary Cataracts (HSF4 Exon 9, Australian Shepherd Variant)

Clear

Hereditary Footpad Hyperkeratosis (FAM83G, Terrier and Kromfohrlander Variant)

Clear

Hereditary Nasal Parakeratosis, HNPK (SUV39H2)

Clear

Hereditary Vitamin D-Resistant Rickets (VDR)

Clear

Health Report

Other Results

Hypocatalasia, Acatalasemia (CAT)

Clear

Hypomyelination and Tremors (FNIP2, Weimaraner Variant)

Clear

Ichthyosis (SLC27A4, Great Dane Variant)

Clear

Ichthyosis, Epidermolytic Hyperkeratosis (KRT10, Terrier Variant)

Clear

Ichthyosis, ICH1 (PNPLA1, Golden Retriever Variant)

Clear

Inherited Myopathy of Great Danes (BIN1)

Clear

Intervertebral Disc Disease (Type I) (FGF4 retrogene - CFA12)

Clear

Juvenile Epilepsy (LGI2)

Clear

Juvenile Laryngeal Paralysis and Polyneuropathy (RAB3GAP1, Rottweiler Variant)

Clear

L-2-Hydroxyglutaricaciduria, L2HGA (L2HGDH, Staffordshire Bull Terrier Variant)

Clear

Lagotto Storage Disease (ATG4D)

Clear

Late Onset Spinocerebellar Ataxia (CAPN1)

Clear

Leonberger Polyneuropathy 1 (LPN1, ARHGEF10)

Clear

Ligneous Membranitis, LM (PLG)

Clear

Long QT Syndrome (KCNQ1)

Clear

Macular Corneal Dystrophy, MCD (CHST6)

Clear

Malignant Hyperthermia (RYR1)

Clear

May-Hegglin Anomaly (MYH9)

Clear

Health Report

Other Results

Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A, MPS IIIA (SGSH Exon 6, Dachshund Variant)

Clear

Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A, MPS IIIA (SGSH Exon 6, New Zealand Huntaway Variant)

Clear

Mucopolysaccharidosis Type VII, Sly Syndrome, MPS VII (GUSB Exon 3, German Shepherd Variant)

Clear

Mucopolysaccharidosis Type VII, Sly Syndrome, MPS VII (GUSB Exon 5, Terrier Brasileiro Variant)

Clear

Muscular Dystrophy (DMD, Cavalier King Charles Spaniel Variant 1)

Clear

Muscular Dystrophy (DMD, Golden Retriever Variant)

Clear

Musladin-Lueke Syndrome, MLS (ADAMTSL2)

Clear

Myotonia Congenita (CLCN1 Exon 7, Miniature Schnauzer Variant)

Clear

Narcolepsy (HCRTR2 Intron 6, Labrador Retriever Variant)

Clear

Neonatal Cerebellar Cortical Degeneration (SPTBN2, Beagle Variant)

Clear

Neonatal Encephalopathy with Seizures, NEWS (ATF2)

Clear

Neuronal Ceroid Lipofuscinosis 1, NCL 1 (PPT1 Exon 8, Dachshund Variant 1)

Clear

Neuronal Ceroid Lipofuscinosis 10, NCL 10 (CTSD Exon 5, American Bulldog Variant)

Clear

Neuronal Ceroid Lipofuscinosis 2, NCL 2 (TPP1 Exon 4, Dachshund Variant 2)

Clear

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

Clear

Neuronal Ceroid Lipofuscinosis 6, NCL 6 (CLN6 Exon 7, Australian Shepherd Variant)

Clear

Neuronal Ceroid Lipofuscinosis 7, NCL 7 (MFSD8, Chihuahua and Chinese Crested Variant)

Clear

Neuronal Ceroid Lipofuscinosis 8, NCL 8 (CLN8 Exon 2, English Setter Variant)

Clear

Health Report

Other Results

Neuronal Ceroid Lipofuscinosis, Cerebellar Ataxia, NCL4A (ARSG Exon 2, American Staffordshire Terrier Variant)

Clear

Osteochondrodysplasia (SLC13A1, Poodle Variant)

Clear

Osteogenesis Imperfecta (COL1A2, Beagle Variant)

Clear

Osteogenesis Imperfecta (SERPINH1, Dachshund Variant)

Clear

Osteogenesis Imperfecta (COL1A1, Golden Retriever Variant)

Clear

P2Y12 Receptor Platelet Disorder (P2Y12)

Clear

Pachyonychia Congenita (KRT16, Dogue de Bordeaux Variant)

Clear

Persistent Mullerian Duct Syndrome, PMDS (AMHR2)

Clear

Polycystic Kidney Disease, PKD (PKD1)

Clear

Polyneuropathy (NDRG1 Deletion, Greyhound Variant)

Clear

Pompe's Disease (GAA, Finnish and Swedish Lapphund, Lapponian Herder Variant)

Clear

Prekallikrein Deficiency (KLKB1 Exon 8)

Clear

Primary Ciliary Dyskinesia, PCD (CCDC39 Exon 3, Old English Sheepdog Variant)

Clear

Primary Hyperoxaluria (AGXT)

Clear

Primary Open Angle Glaucoma (ADAMTS17 Exon 11, Basset Fauve de Bretagne Variant)

Clear

Primary Open Angle Glaucoma (ADAMTS10 Exon 17, Beagle Variant)

Clear

Primary Open Angle Glaucoma (ADAMTS10 Exon 9, Norwegian Elkhound Variant)

Clear

Progressive Retinal Atrophy (SAG)

Clear

Health Report

Other Results

Progressive Retinal Atrophy, CNGA (CNGA1 Exon 9)

Clear

Progressive Retinal Atrophy, crd1 (PDE6B, American Staffordshire Terrier Variant)

Clear

Progressive Retinal Atrophy, crd2 (IQCB1)

Clear

Progressive Retinal Atrophy, crd4/cord1 (RPGRIP1)

Clear

Progressive Retinal Atrophy, PRA1 (CNGB1)

Clear

Progressive Retinal Atrophy, rcd1 (PDE6B Exon 21, Irish Setter Variant)

Clear

Progressive Retinal Atrophy, rcd3 (PDE6A)

Clear

Protein Losing Nephropathy, PLN (NPHS1)

Clear

Pyruvate Dehydrogenase Deficiency (PDP1, Spaniel Variant)

Clear

Pyruvate Kinase Deficiency (PKLR Exon 5, Basenji Variant)

Clear

Pyruvate Kinase Deficiency (PKLR Exon 7, Beagle Variant)

Clear

Pyruvate Kinase Deficiency (PKLR Exon 10, Terrier Variant)

Clear

Pyruvate Kinase Deficiency (PKLR Exon 7, Labrador Retriever Variant)

Clear

Pyruvate Kinase Deficiency (PKLR Exon 7, Pug Variant)

Clear

Renal Cystadenocarcinoma and Nodular Dermatofibrosis (FLCN Exon 7)

Clear

Severe Combined Immunodeficiency, SCID (PRKDC, Terrier Variant)

Clear

Severe Combined Immunodeficiency, SCID (RAG1, Wetterhoun Variant)

Clear

Shaking Puppy Syndrome (PLP1, English Springer Spaniel Variant)

Clear

Health Report

Other Results

Skeletal Dysplasia 2, SD2 (COL11A2, Labrador Retriever Variant)

Clear

Skin Fragility Syndrome (PKP1, Chesapeake Bay Retriever Variant)

Clear

Spinocerebellar Ataxia with Myokymia and/or Seizures (KCNJ10)

Clear

Thrombopathia (RASGRP1 Exon 5, American Eskimo Dog Variant)

Clear

Thrombopathia (RASGRP1 Exon 5, Basset Hound Variant)

Clear

Thrombopathia (RASGRP1 Exon 8, Landseer Variant)

Clear

Trapped Neutrophil Syndrome, TNS (VPS13B)

Clear

Urate Kidney & Bladder Stones (SLC2A9)

Clear

Von Willebrand Disease Type I, Type I vWD (VWF)

Clear

Von Willebrand Disease Type II, Type II vWD (VWF Exon 28)

Clear

Von Willebrand Disease Type III, Type III vWD (VWF Exon 4, Terrier Variant)

Clear

Von Willebrand Disease Type III, Type III vWD (VWF Exon 7, Shetland Sheepdog Variant)

Clear

X-Linked Hereditary Nephropathy, XLHN (COL4A5 Exon 35, Samoyed Variant 2)

Clear

X-Linked Myotubular Myopathy (MTM1, Labrador Retriever Variant)

Clear

X-linked Severe Combined Immunodeficiency, X-SCID (IL2RG Exon 1, Basset Hound Variant)

Clear

X-linked Severe Combined Immunodeficiency, X-SCID (IL2RG, Corgi Variant)

Clear

Health Report

Increased risk result

Primary Lens Luxation

Shadoe inherited one copy of the variant we tested for Primary Lens Luxation

Shadoe is at increased risk for PLL

How to interpret this result

Shadoe has one copy of a variant in the ADAMTS17 gene and is at some risk for developing PLL. This variant is known to have an additive effect, so while dogs with one copy of the variant like Shadoe have a higher risk than dogs with two healthy alleles at ADAMTS17, their risk is much lower than a dog with two copies of the variant. Actual risk associated with having one copy of this variant appears to vary in a breed-specific manner. A study published by Gould et al 2011 supports that Tibetan Terriers with one copy of the variant have minimal risk of developing PLL, whereas this risk can range from 2-20% in other terrier breeds. Please consult with your veterinarian to discuss the best ways to monitor Shadoe's eyes and vision.

What is Primary Lens Luxation?

PLL occurs when the lens spontaneously detaches from its normal residence within the pupil, leading to reduced visual acuity. Anterior lens luxation is when the lens falls forward and posterior lens luxation is when the lens falls backwards in the eye.

When signs & symptoms develop in affected dogs

Signs of this disease typically first appear in adulthood (3-8 years on average).

Signs & symptoms

You can visually appreciate the lens luxation by peeking in your dog's pupil: almost always, the dislodged lens can be seen as a clear half moon either in front of or in back of the iris. Your dog may also show signs of ocular irritation and pain.

How vets diagnose this condition

Your veterinarian will examine your dog’s eyes carefully and determine if it is an anterior or posterior luxation. They may run additional tests to check for secondary complications.

How this condition is treated

Surgical correction by a veterinary ophthalmologist is necessary if the lens falls forward (anterior lens luxation). No treatment may be required except careful monitoring if the lens falls backward (posterior lens luxation).

Actions to take if your dog is affected

The best care you can provide your dog is seeking the expert opinion of your veterinarian for an accurate diagnosis and determining whether or not a specialty consult for surgery is required.

Health Report

Notable result

ALT Activity

Shadoe inherited one copy of the variant we tested for Alanine Aminotransferase Activity

Why is this important to your vet?

Shadoe has one copy of a variant associated with reduced ALT activity as measured on veterinary blood chemistry panels. Please inform your veterinarian that Shadoe has this genotype, as ALT is often used as an indicator of liver health and Shadoe is likely to have a lower than average resting ALT activity. As such, an increase in Shadoe’s ALT activity could be evidence of liver damage, even if it is within normal limits by standard ALT reference ranges.

What is Alanine Aminotransferase 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.

How vets diagnose this condition

Genetic testing is the only way to provide your veterinarian with this clinical tool.

How this condition is treated

Veterinarians may recommend blood work to establish a baseline ALT value for healthy dogs with one or two copies of this variant.

Health Report

Notable result

Progressive Retinal Atrophy, prcd

Shadoe inherited one copy of the variant we tested for Progressive Retinal Atrophy, prcd

What does this result mean?

This variant should not impact Shadoe’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. Shadoe is unlikely to develop this condition due to this variant because she only has one copy of the variant.

What is Progressive Retinal Atrophy, prcd?

PRA-prcd is a retinal disease that causes progressive, non-painful vision loss. The retina contains cells, called photoreceptors, that collect information about light and send signals to the brain. There are two types of photoreceptors: rods, for night vision and movement, and cones, for day vision and color. This type of PRA leads to early loss of rod cells, leading to night blindness before day blindness.

When signs & symptoms develop in affected dogs

The age affected dogs will first show signs of visual impairment varies by breed. However, most begin showing clinical signs in early adulthood.

How vets diagnose this condition

Veterinarians use a focused light to examine the pupils. In affected dogs, the pupils will appear more dilated and slower to contract. Your vet may also use a lens to visualize the retina at the back of the eye to look for changes in the optic nerve or blood vessels. You may be referred to a veterinary ophthalmologist for a definitive diagnosis.

How this condition is treated

Currently, there is no definitive treatment for PRA. Supplements, including antioxidants, have been proposed for management of the disease, but have not been scientifically proven effective.

Actions to take if your dog is affected

Careful monitoring by your veterinarian will be required for the rest of your affected dog's life as secondary complications, including cataracts, can develop.
With blind dogs, keeping furniture in the same location, making sure they are on a leash in unfamiliar territory, and training them to understand verbal commands are some of the ways to help them at home.

Genetic Diversity and Inbreeding

Coefficient of Inbreeding (COI)

Genetic Result:: 7%

Our genetic COI measures the proportion of your dog’s genome (her genes) where the genes on the mother’s side are identical by descent to those on the father’s side. The higher your dog’s coefficient of inbreeding (the percentage), the more inbred your dog is.

Your Dog’s COI

This graph represents where your dog’s inbreeding levels fall on a scale compared to both dogs with a similar breed makeup to her (the blue bars) and all purebred dogs (the grey line).

Genetic Diversity and Inbreeding

More on the Science

Embark scientists, along with our research partners at Cornell University, have shown the impact of inbreeding on longevity and fertility and developed a state-of-the-art, peer-reviewed method for accurately measuring COI and predicting average COI in litters.

Citations

About Embark

Embark Veterinary is a canine genetics company offering research-grade genetic tests to pet owners and breeders. Every Embark test examines over 200,000 genetic markers, and provides results for over 250 genetic health conditions, breed identification, clinical tools, and more.

Embark is a research partner of the Cornell University College of Veterinary Medicine and collaborates with scientists and registries to accelerate genetic research in canine health. We make it easy for customers and vets to understand, share and make use of their dog’s unique genetic profile to improve canine health and happiness.

Learn more at embarkvet.com

Veterinarians and hospitals can send inquiries to veterinarians@embarkvet.com.