Embark with us!

Bella

Veterinary Report by Embark

embarkvet.com

Test Date: November 22nd, 2017

Customer-supplied information

Owner Name: Maria Triolo
Dog Name: Bella
Sex: Female (fixed)
Date of birth: 06/01/13 (Estimated)

Breed type: purebred
Breed: Boston Terrier
Breed registration: N/A
Microchip: N/A

Genetic summary

Genetic breed identification:
Boston Terrier

Breed mix:

Boston Terrier: 100.0%

Predicted adult weight: 26 lbs

Calculated from 17 size genes.

Life stage: Senior

Based on date of birth provided.

Health Report

How to interpret Bella’s genetic health results:

If Bella 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 Bella 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 167 genetic health risks we analyzed, we found 2 results that you should learn about.

Notable results

(2)

Canine Multifocal Retinopathy, cmr1

Hereditary Cataracts

Clear results

Other

(165)

Health Report

Breed-relevant Results

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

Hereditary Cataracts (HSF4 Exon 9, Boston Terrier Variant)

Notable

Health Report

Other Results

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

Canine Multifocal Retinopathy, cmr1 (BEST1 Exon 2)

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

ALT Activity (GPT)

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, 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

Collie Eye Anomaly (NHEJ1)

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-A (SLC3A1, Australian Cattle Dog 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

Health Report

Other Results

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

Clear

Degenerative Myelopathy, DM (SOD1A)

Clear

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

Health Report

Other Results

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

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, Australian Shepherd Variant)

Clear

Hereditary Footpad Hyperkeratosis (FAM83G, Terrier and Kromfohrlander Variant)

Clear

Hereditary Nasal Parakeratosis, HNPK (SUV39H2)

Clear

Health Report

Other Results

Hereditary Vitamin D-Resistant Rickets (VDR)

Clear

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

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

Multiple Drug Sensitivity (ABCB1)

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 23, Australian Cattle Dog Variant)

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 SNP, Border Collie Variant)

Clear

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

Clear

Health Report

Other Results

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, Australian Shepherd Variant)

Clear

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

Clear

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

Health Report

Other Results

Primary Lens Luxation (ADAMTS17)

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

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, prcd (PRCD Exon 1)

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

Health Report

Other Results

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

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

Health Report

Other Results

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

Notable result

Canine Multifocal Retinopathy, cmr1

Bella inherited one copy of the variant we tested for Canine Multifocal Retinopathy, cmr1

What does this result mean?

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

What is Canine Multifocal Retinopathy, cmr1?

This is a non-progressive retinal disease that, in rare cases, can lead to vision loss. Dogs with larger lesions can suffer from vision loss. CMR is fairly non-progressive; new lesions will typically stop forming by the time a dog is an adult, and some lesions will even regress with time.

When signs & symptoms develop in affected dogs

cmr1 typically develops in puppies at 11 to 16 weeks and becomes stable by the time they are 1 year old.

How vets diagnose this condition

CMR is typically only identified when a vet examines the back of the eye which, in dogs with CMR, reveals multiple retinal abnormalities that range from small, flat folds (called "retinal folds") to larger, irregularly edged raised lesions (called "geographic lesions").

How this condition is treated

Currently, there is no treatment for CMR. However, CMR rarely affects vision to a significant degree, and as we stated, even the associated retinal abnormalities can regress over time.

Actions to take if your dog is affected

Carefully monitoring your dog's vision and seeking a veterinary ophthamologist's opinion if you are concerned are the best ways you can help your affected dog.

Health Report

Notable result

Hereditary Cataracts

Bella inherited one copy of the variant we tested for Hereditary Cataracts, Early-Onset Cataracts, Juvenile Cataracts

What does this result mean?

What is Hereditary Cataracts, Early-Onset Cataracts, Juvenile Cataracts?

Cataracts are the result of a progressive disease of the lens. The lens is normally a transparent structure of precisely organized fibers that lives in the pupil and focuses light. Cataracts cause the lens fibers to become disordered and turns the lens into a milky blue color. The lens is no longer transparent, light fails to reach the retina, and blindness is the end result. With this genetic mutation, dogs can develop cataracts at only a few weeks to months of age.

When signs & symptoms develop in affected dogs

While cataracts are typically a disease of the aged dog and can be associated with other eye diseases (these would be termed secondary cataracts), mutations in the HSF4 gene cause cataracts to form at an accelerated rate in comparatively young dogs (approximately 15 months).

How vets diagnose this condition

Veterinarians will examine your dog’s eyes, and may use a light or lens to assist in the diagnosis. Please note that there are other ocular diseases that are commonly mistaken for cataracts so be sure to have your dog evaluated by a veterinarian.

How this condition is treated

Surgical correction by a veterinary ophthalmologist is currently the only treatment available to restore your dog’s vision. The other alternative is careful monitoring and lifestyle changes to make your dog’s blindness more manageable.

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.

Genetic Diversity and Inbreeding

Coefficient of Inbreeding (COI)

Genetic Result:: 11%

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.