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Thrill

Veterinary Report by Embark

embarkvet.com

Test Date: September 4th, 2017

Customer-supplied information

Owner Name: Barbara L Valerio
Dog Name: Thrill
Sex: Female (intact)
Date of birth: 12/14/13 (Estimated)

Breed type: purebred
Breed: Doberman Pinscher
Breed registration: N/A
Microchip: N/A

Genetic summary

Genetic breed identification:
Doberman Pinscher

Breed ancestry:

Doberman Pinscher: 100.0%

Predicted adult weight: 75 lbs

Calculated from 17 size genes.


Life stage: Senior

Based on date of birth provided.

Health Report

How to interpret Thrill’s genetic health results:

If Thrill 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 Thrill 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 159 genetic health risks we analyzed, we found 1 result that you should learn about.

Increased risk results

(1)

Von Willebrand Disease Type I, Type I vWD

Clear results

Breed-relevant

(1)

Other

(156)

Health Report

Breed-relevant Results

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

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

Increased risk

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

Clear

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

No result

Health Report

Other Results

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

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 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

Cerebellar Hypoplasia (VLDLR, Eurasier Variant)

Clear

Health Report

Other Results

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

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

Clear

Degenerative Myelopathy, DM (SOD1A)

Clear

Health Report

Other Results

Dry Eye Curly Coat Syndrome (FAM83H Exon 5)

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

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

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

Health Report

Other Results

GM2 Gangliosidosis (HEXB, Poodle Variant)

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

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

Health Report

Other Results

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

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

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

Health Report

Other Results

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 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

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

Health Report

Other Results

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 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

Health Report

Other Results

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

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

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

Health Report

Other Results

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 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

Health Report

Increased risk result

Von Willebrand Disease Type I, Type I vWD

Barnic's Shoot To Thrill CD,RE,BN,URO-1,TT,CGC inherited one copy of the variant we tested for Von Willebrand Disease Type I, Type I vWD

Thrill is at increased risk for Type I vWD

How to interpret this result

Thrill has one copy of this variant in the VWF gene and will likely have decreased levels of vWF compared to a dog without this variant. However, they will have higher levels of vWF than a dog with two copies of this variant. There is a slightly increased risk of bleeding in dogs with one copy of the variant, particularly when other clotting issues are also present. Please consult your veterinarian for further diagnostic and care options.

What is Von Willebrand Disease Type I, Type I vWD?

Von Willebrand Disease (vWD) is a type of coagulopathy, a disorder of blood clotting. vWD is characterized into three types based on clinical severity, serum levels of vWF, and vWF multimer composition. Dogs with Type I vWD have low vWF levels, normal multimer composition, and variable clinical signs.

When signs & symptoms develop in affected dogs

This disease is typically diagnosed in puppies or young adults when they are spayed or neutered and have a problem with clotting. However, it can be diagnosed at any age.

Signs & symptoms

Affected dogs may show no obvious clinical signs or they may bruise easily and excessively bleed from small wounds. Affected puppies may bleed excessively from their mouth when teething.

How vets diagnose this condition

vWD is diagnosed through genetic testing and blood testing at a laboratory. Veterinarians may also nick a dog’s lip with a sterile needle and time how long it takes for clotting to occur.

How this condition is treated

vWD cannot be treated, only managed. Preventing injuries is goal number one. If your dog requires surgery, your veterinarian should be warned that excessive bleeding may occur and blood products need to be on hand in case a transfusion is required.

Actions to take if your dog is affected

  • Prevention is key! Minimizing the risk of trauma and informing your veterinarian so that surgeries can be carefully planned are the best ways to prevent a catastrophic outcome.
  • Be aware of the location of the nearest emergency veterinary hospital in case of an accident.

Genetic Diversity and Inbreeding

Coefficient of Inbreeding (COI)

Genetic Result:
28%

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 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.