Veterinary Report by Embark

Test Date: December 13th, 2020

Customer-supplied information

Owner Name: Dusty Hallam
Dog Name: Buddy
Sex: Male (intact)
Date of birth: n/a
Breed type: mixed
Breed: n/a
Breed registration: n/a
Microchip: n/a

Genetic summary

Genetic breed identification:

Breed mix:
Australian Shepherd: 50.0%
Poodle (Standard): 50.0%
Predicted adult weight: 55 lbs
Calculated from 17 size genes.

Genetic age: n/a (Date of birth unknown)
Human equivalent age based on size, date of birth provided, and other factors

Karyogram (Chromosome painting)

Chromosome 1
Chromosome 2
Chromosome 3
Chromosome 4
Chromosome 5
Chromosome 6
Chromosome 7
Chromosome 8
Chromosome 9
Chromosome 10
Chromosome 11
Chromosome 12
Chromosome 13
Chromosome 14
Chromosome 15
Chromosome 16
Chromosome 17
Chromosome 18
Chromosome 19
Chromosome 20
Chromosome 21
Chromosome 22
Chromosome 23
Chromosome 24
Chromosome 25
Chromosome 26
Chromosome 27
Chromosome 28
Chromosome 29
Chromosome 30
Chromosome 31
Chromosome 32
Chromosome 33
Chromosome 34
Chromosome 35
Chromosome 36
Chromosome 37
Chromosome 38

Clinical Tools

These clinical genetic tools can inform clinical decisions and diagnoses. These tools do not predict increased risk for disease.

Alanine Aminotransferase Activity (GPT)
Buddy's baseline ALT level is Low Normal
Why is this important to your vet?

Buddy 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 Buddy's ALT activity above their current, healthy, ALT activity. As an increase above Buddy’s baseline 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

How to interpret Buddy’s genetic health results:

If Buddy 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 Buddy 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.

Buddy inherited one variant that you should learn more about.

Progressive Retinal Atrophy - crd4/cord1
Breed-Relevant Genetic Conditions
15 variants not detected

Additional Genetic Conditions
190 variants not detected

Health Report

Progressive Retinal Atrophy - crd4/cord1 (RPGRIP1)
Buddy inherited one copy of the variant we tested
What does this result mean?

This result does not impact your dog’s health. It could have consequences for siblings or other family members, and you should let them know if you are in contact with them. This result is also important if you decide to breed this dog - to produce the healthiest puppies we recommend genetic testing any potential mates for this condition.

What is Progressive Retinal Atrophy - crd4/cord1?

PRA-CRD4/cord1 is a retinal disease that causes progressive, non-painful vision loss over a 1-2 year period. 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 cone cells, causing day blindness before night blindness.

When signs & symptoms develop in affected dogs

The earliest ophthalmic signs are typically present by 6 months of age. There is a wide range in the age of when dogs become clinically affected, although the average age is approximately 5 years. Dogs as young as 6 months may be blind, while dogs as old as 10 may still have vision.

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.

Breed-Relevant Conditions Tested

Buddy did not have the variants that we tested for, that are relevant to his breeds:

MDR1 Drug Sensitivity (MDR1)
Von Willebrand Disease Type I (VWF)
Progressive Retinal Atrophy, prcd (PRCD Exon 1)
Collie Eye Anomaly, Choroidal Hypoplasia, CEA (NHEJ1)
Canine Multifocal Retinopathy (BEST1 Exon 2)
Hereditary Cataracts, Early-Onset Cataracts, Juvenile Cataracts (HSF4 Exon 9 Shepherd Variant)
Hyperuricosuria and Hyperuricemia or Urolithiasis, HUU (SLC2A9)
Neuronal Ceroid Lipofuscinosis 6, NCL 6 (CLN6 Exon 7)
Neuronal Ceroid Lipofuscinosis (CLN8 Australian Shepherd Variant)
GM2 Gangliosidosis (HEXB, Poodle Variant)
Degenerative Myelopathy, DM (SOD1A)
Neonatal Encephalopathy with Seizures, NEWS (ATF2)
Osteochondrodysplasia, Skeletal Dwarfism (SLC13A1)
Craniomandibular Osteopathy, CMO (SLC37A2)
Chondrodystrophy and Intervertebral Disc Disease, CDDY/IVDD, Type I IVDD (FGF4 retrogene - CFA12)

Additional Conditions Tested

Buddy did not have the variants that we tested for, in the following conditions that the potential effect on dogs with Buddy’s breeds may not yet be known.

P2Y12 Receptor Platelet Disorder (P2Y12)
Factor IX Deficiency, Hemophilia B (F9 Exon 7, Terrier Variant)
Factor IX Deficiency, Hemophilia B (F9 Exon 7, Rhodesian Ridgeback Variant)
Factor VII Deficiency (F7 Exon 5)
Factor VIII Deficiency, Hemophilia A (F8 Exon 10, Boxer Variant)
Factor VIII Deficiency, Hemophilia A (F8 Exon 11, Shepherd Variant 1)
Factor VIII Deficiency, Hemophilia A (F8 Exon 1, Shepherd Variant 2)
Thrombopathia (RASGRP1 Exon 5, Basset Hound Variant)
Thrombopathia (RASGRP1 Exon 8)
Thrombopathia (RASGRP1 Exon 5, American Eskimo Dog Variant)
Von Willebrand Disease Type III, Type III vWD (VWF Exon 4)
Von Willebrand Disease Type III, Type III vWD (VWF Exon 7)
Von Willebrand Disease Type II, Type II vWD (VWF)
Canine Leukocyte Adhesion Deficiency Type I, CLADI (ITGB2)
Canine Leukocyte Adhesion Deficiency Type III, CLADIII (FERMT3)
Congenital Macrothrombocytopenia (TUBB1 Exon 1, Cairn and Norfolk Terrier Variant)
Canine Elliptocytosis (SPTB Exon 30)
Glanzmann's Thrombasthenia Type I (ITGA2B Exon 12)
May-Hegglin Anomaly (MYH9)
Prekallikrein Deficiency (KLKB1 Exon 8)
Pyruvate Kinase Deficiency (PKLR Exon 5)
Pyruvate Kinase Deficiency (PKLR Exon 7 Labrador Variant)
Pyruvate Kinase Deficiency (PKLR Exon 7 Pug Variant)
Pyruvate Kinase Deficiency (PKLR Exon 7 Beagle Variant)

Additional Conditions Tested

Pyruvate Kinase Deficiency (PKLR Exon 10)
Trapped Neutrophil Syndrome (VPS13B)
Ligneous Membranitis, LM (PLG)
Platelet factor X receptor deficiency, Scott Syndrome (TMEM16F)
Methemoglobinemia CYB5R3
Congenital Hypothyroidism (TPO, Tenterfield Terrier Variant)
Congenital Hypothyroidism (TPO, Rat, Toy, Hairless Terrier Variant)
Complement 3 Deficiency, C3 Deficiency (C3)
Severe Combined Immunodeficiency (PRKDC)
Severe Combined Immunodeficiency (RAG1)
X-linked Severe Combined Immunodeficiency (IL2RG Variant 1)
X-linked Severe Combined Immunodeficiency (IL2RG Variant 2)
Progressive Retinal Atrophy, rcd1 (PDE6B Exon 21 Irish Setter Variant)
Progressive Retinal Atrophy, rcd3 (PDE6A)
Progressive Retinal Atrophy, CNGA (CNGA1 Exon 9)
Progressive Retinal Atrophy (CNGB1)
Progressive Retinal Atrophy (SAG)
Golden Retriever Progressive Retinal Atrophy 1, GR-PRA1 (SLC4A3)
Golden Retriever Progressive Retinal Atrophy 2, GR-PRA2 (TTC8)
Progressive Retinal Atrophy, crd1 (PDE6B)
X-Linked Progressive Retinal Atrophy 1, XL-PRA1 (RPGR)
Progressive Retinal Atrophy, PRA3 (FAM161A)
Day blindness, Cone Degeneration, Achromatopsia (CNGB3 Exon 6)
Achromatopsia (CNGA3 Exon 7 German Shepherd Variant)

Additional Conditions Tested

Achromatopsia (CNGA3 Exon 7 Labrador Retriever Variant)
Autosomal Dominant Progressive Retinal Atrophy (RHO)
Canine Multifocal Retinopathy (BEST1 Exon 5)
Canine Multifocal Retinopathy (BEST1 Exon 10 Deletion)
Canine Multifocal Retinopathy (BEST1 Exon 10 SNP)
Glaucoma (ADAMTS10 Exon 9)
Glaucoma (ADAMTS10 Exon 17)
Glaucoma (ADAMTS17 Exon 11)
Glaucoma (ADAMTS17 Exon 2)
Goniodysgenesis and Glaucoma (OLFM3)
Primary Lens Luxation (ADAMTS17)
Congenital Stationary Night Blindness (RPE65)
Congenital Stationary Night Blindness (LRIT3)
Macular Corneal Dystrophy, MCD (CHST6)
2,8-Dihydroxyadenine Urolithiasis, 2,8-DHA Urolithiasis (APRT)
Cystinuria Type I-A (SLC3A1)
Cystinuria Type II-A (SLC3A1)
Cystinuria Type II-B (SLC7A9)
Polycystic Kidney Disease, PKD (PKD1)
Primary Hyperoxaluria (AGXT)
Protein Losing Nephropathy, PLN (NPHS1)
X-Linked Hereditary Nephropathy, XLHN (COL4A5 Exon 35, Samoyed Variant 2)
Autosomal Recessive Hereditary Nephropathy, Familial Nephropathy, ARHN (COL4A4 Exon 3)
Primary Ciliary Dyskinesia, PCD (CCDC39 Exon 3)

Additional Conditions Tested

Primary Ciliary Dyskinesia, PCD (NME5)
Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis, Dry Eye Curly Coat Syndrome, CKCSID (FAM83H Exon 5)
X-linked Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasia (EDA Intron 8)
Renal Cystadenocarcinoma and Nodular Dermatofibrosis, RCND (FLCN Exon 7)
Canine Fucosidosis (FUCA1)
Glycogen Storage Disease Type II, Pompe's Disease, GSD II (GAA)
Glycogen Storage Disease Type IA, Von Gierke Disease, GSD IA (G6PC)
Glycogen Storage Disease Type IIIA, GSD IIIA (AGL)
Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A, MPS IIIA (SGSH Exon 6 Variant 1)
Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A, MPS IIIA (SGSH Exon 6 Variant 2)
Mucopolysaccharidosis Type VII, Sly Syndrome, MPS VII (GUSB Exon 5)
Mucopolysaccharidosis Type VII, Sly Syndrome, MPS VII (GUSB Exon 3)
Glycogen storage disease Type VII, Phosphofructokinase Deficiency, PFK Deficiency (PFKM Whippet and English Springer Spaniel Variant)
Glycogen storage disease Type VII, Phosphofructokinase Deficiency, PFK Deficiency (PFKM Wachtelhund Variant)
Lagotto Storage Disease (ATG4D)
Neuronal Ceroid Lipofuscinosis 1, NCL 1 (PPT1 Exon 8)
Neuronal Ceroid Lipofuscinosis 2, NCL 2 (TPP1 Exon 4)
Neuronal Ceroid Lipofuscinosis 1, Cerebellar Ataxia, NCL4A (ARSG Exon 2)
Neuronal Ceroid Lipofuscinosis 1, NCL 5 (CLN5 Border Collie Variant)
Neuronal Ceroid Lipofuscinosis 8, NCL 8 (CLN8 English Setter Variant)
Neuronal Ceroid Lipofuscinosis (MFSD8)
Neuronal Ceroid Lipofuscinosis 10, NCL 10 (CTSD Exon 5)
Neuronal Ceroid Lipofuscinosis (CLN5 Golden Retriever Variant)
Adult-Onset Neuronal Ceroid Lipofuscinosis (ATP13A2, Tibetan Terrier Variant)

Additional Conditions Tested

Late-Onset Neuronal Ceroid Lipofuscinosis (ATP13A2, Australian Cattle Dog Variant)
GM1 Gangliosidosis (GLB1 Exon 15 Shiba Inu Variant)
GM1 Gangliosidosis (GLB1 Exon 15 Alaskan Husky Variant)
GM1 Gangliosidosis (GLB1 Exon 2)
GM2 Gangliosidosis (HEXA)
Globoid Cell Leukodystrophy, Krabbe disease (GALC Exon 5)
Autosomal Recessive Amelogenesis Imperfecta, Familial Enamel Hypoplasia (Italian Greyhound Variant)
Autosomal Recessive Amelogenesis Imperfecta, Familial Enamel Hypoplasia (Parson Russell Terrier Variant)
Persistent Mullerian Duct Syndrome, PMDS (AMHR2)
Deafness and Vestibular Syndrome of Dobermans, DVDob, DINGS (MYO7A)
Shar-Pei Autoinflammatory Disease, SPAID, Shar-Pei Fever (MTBP)
Neonatal Interstitial Lung Disease (LAMP3)
Alaskan Husky Encephalopathy, Subacute Necrotizing Encephalomyelopathy (SLC19A3)
Alexander Disease (GFAP)
Cerebellar Abiotrophy, Neonatal Cerebellar Cortical Degeneration, NCCD (SPTBN2)
Cerebellar Ataxia, Progressive Early-Onset Cerebellar Ataxia (SEL1L)
Cerebellar Hypoplasia (VLDLR)
Spinocerebellar Ataxia, Late-Onset Ataxia, LoSCA (CAPN1)
Spinocerebellar Ataxia with Myokymia and/or Seizures (KCNJ10)
Hereditary Ataxia (RAB24)
Benign Familial Juvenile Epilepsy, Remitting Focal Epilepsy (LGI2)
Fetal-Onset Neonatal Neuroaxonal Dystrophy (MFN2)
Hypomyelination and Tremors (FNIP2)
Shaking Puppy Syndrome, X-linked Generalized Tremor Syndrome (PLP)

Additional Conditions Tested

Neuroaxonal Dystrophy, NAD (Spanish Water Dog Variant)
Neuroaxonal Dystrophy, NAD (Rottweiler Variant)
L-2-Hydroxyglutaricaciduria, L2HGA (L2HGDH)
Polyneuropathy, NDRG1 Malamute Variant (NDRG1 Exon 4)
Narcolepsy (HCRTR2 Intron 6)
Narcolepsy (HCRTR2 Exon 1)
Progressive Neuronal Abiotrophy, Canine Multiple System Degeneration, CMSD (SERAC1 Exon 15)
Progressive Neuronal Abiotrophy, Canine Multiple System Degeneration, CMSD (SERAC1 Exon 4)
Juvenile Laryngeal Paralysis and Polyneuropathy, Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation, POANV (RAB3GAP1, Rottweiler Variant)
Hereditary Sensory Autonomic Neuropathy, Acral Mutilation Syndrome, AMS (GDNF-AS)
Juvenile-Onset Polyneuropathy, Leonberger Polyneuropathy 1, LPN1 (LPN1, ARHGEF10)
Juvenile Myoclonic Epilepsy (DIRAS1)
Juvenile-Onset Polyneuropathy, Leonberger Polyneuropathy 2, LPN2 (GJA9)
Spongy Degeneration with Cerebellar Ataxia 1, SDCA1, SeSAME/EAST Syndrome (KCNJ10)
Spongy Degeneration with Cerebellar Ataxia 2, SDCA2 (ATP1B2)
Dilated Cardiomyopathy, DCM1 (PDK4)
Dilated Cardiomyopathy, DCM2 (TTN)
Long QT Syndrome (KCNQ1)
Cardiomyopathy and Juvenile Mortality (YARS2)
Muscular Dystrophy (DMD, Cavalier King Charles Spaniel Variant 1)
Muscular Dystrophy (DMD Pembroke Welsh Corgi Variant )
Muscular Dystrophy (DMD Golden Retriever Variant)
Limb Girdle Muscular Dystrophy (SGCD, Boston Terrier Variant)
Ulrich-like Congenital Muscular Dystrophy (COL6A3, Labrador Variant)

Additional Conditions Tested

Centronuclear Myopathy (PTPLA)
Exercise-Induced Collapse (DNM1)
Inherited Myopathy of Great Danes (BIN1)
Myostatin Deficiency, Bully Whippet Syndrome (MSTN)
Myotonia Congenita (CLCN1 Exon 7)
Myotonia Congenita (CLCN1 Exon 23)
Myotubular Myopathy 1, X-linked Myotubular Myopathy, XL-MTM (MTM1, Labrador Variant)
Inflammatory Myopathy (SLC25A12)
Hypocatalasia, Acatalasemia (CAT)
Pyruvate Dehydrogenase Deficiency (PDP1)
Malignant Hyperthermia (RYR1)
Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption (CUBN Exon 53)
Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption (CUBN Exon 8)
Inherited Selected Cobalamin Malabsorption with Proteinuria (CUBN)
Lundehund Syndrome (LEPREL1)
Congenital Myasthenic Syndrome (CHAT)
Congenital Myasthenic Syndrome (COLQ)
Congenital Myasthenic Syndrome (CHRNE)
Congenital Myasthenic Syndrome (COLQ)
Myasthenia Gravis Like Syndrome (CHRNE)
Episodic Falling Syndrome (BCAN)
Paroxysmal Dyskinesia, PxD (PGIN)
Demyelinating Polyneuropathy (SBF2/MTRM13)
Dystrophic Epidermolysis Bullosa (COL7A1)

Additional Conditions Tested

Dystrophic Epidermolysis Bullosa (COL7A1)
Ectodermal Dysplasia, Skin Fragility Syndrome (PKP1)
Ichthyosis, Epidermolytic Hyperkeratosis (KRT10)
Ichthyosis (PNPLA1)
Ichthyosis (SLC27A4)
Ichthyosis (NIPAL4)
Hereditary Footpad Hyperkeratosis (FAM83G)
Hereditary Footpad Hyperkeratosis (DSG1)
Hereditary Nasal Parakeratosis (SUV39H2)
Musladin-Lueke Syndrome (ADAMTSL2)
Oculocutaneous Albinism, OCA (Pekingese Type)
Bald Thigh Syndrome (IGFBP5)
Lethal Acrodermatitis (MKLN1)
Ehlers Danlos (Doberman) (ADAMTS2)
Cleft Lip and/or Cleft Palate (ADAMTS20)
Hereditary Vitamin D-Resistant Rickets (VDR)
Osteogenesis Imperfecta, Brittle Bone Disease (COL1A2)
Osteogenesis Imperfecta, Brittle Bone Disease (SERPINH1)
Osteogenesis Imperfecta, Brittle Bone Disease (COL1A1)
Skeletal Dysplasia 2, SD2 (COL11A2)
Raine Syndrome, Canine Dental Hypomineralization Syndrome (FAM20C)
Chondrodystrophy, Norwegian Elkhound and Karelian Bear Dog Variant (ITGA10)

Genetic Diversity and Inbreeding

Coefficient of Inbreeding (COI)

Genetic Result:

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

Coefficient of inbreeding chart

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 yellow dotted line) 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.


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 200 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

Veterinarians and hospitals can send inquiries to