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Maggie

Veterinary Report by embark

embarkvet.com

Test Date: September 28th, 2016

Customer-supplied information

Owner Name: Nicole Ellis
Dog Name: Maggie
Sex: Female (fixed)
Date of birth: 01/01/07 (Estimated)
Breed type: mixed
Breed: n/a
Breed registration: n/a
Microchip: n/a

Genetic summary

Genetic breed identification:
Mixed Breed

Breed mix:
Poodle (Small): 39.3%
Poodle (Standard): 14.4%
Cocker Spaniel: 12.7%
Bichon Frise: 10.9%
Supermutt: 22.7%
Predicted adult weight: 12 lbs
Calculated from 17 size genes.

Genetic age: 80 human years
Human equivalent age based on size, date of birth provided, and other factors

Karyogram (Chromosome painting)

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

Clinical Traits

These clinical genetic traits can inform clinical decisions and diagnoses. These traits do not predict a disease state or increased risk for disease. We currently assess one clinical trait: Alanine Aminotransferase Activity.

Alanine Aminotransferase (ALT) Activity result: Low Normal

Maggie has two copies of a mutation associated with reduced ALT activity. Please inform your veterinarian that Maggie has this genotype, as ALT is often used as an indicator of liver health and Maggie is likely to have a lower than average resting ALT activity. As such, an increase in Maggie’s ALT activity could be evidence of liver damage, even if it is within normal limits by standard ALT reference ranges.

More information on Alanine Aminotransferase (ALT) Activity:
The liver enzyme alanine aminotransferase, or ALT, is one of several values your veterinarian measures on routine blood work to gauge liver health. Dogs with one or more copies of the “A” allele are likely to have a lower baseline ALT activity (“low normal”) than dogs with zero copies of the “A” allele (“normal”). This means that your veterinarian may recommend blood work to establish an individualized baseline ALT value during an annual wellness exam or before starting certain medications. You and your veterinarian would then be able to monitor your dog for any deviation from this established baseline. Please note that this mutation should never cause an increase in your dog’s ALT activity and does not cause liver disease. If your dog has high ALT activity, please consult your veterinarian.

Health Report

How to interpret these results:

AT RISK status: Testing positive (AT RISK) is predictive of your dog being affected by this condition, but it is not a final diagnosis nor does it predict when symptoms may occur or the severity of a condition in your dog.

CARRIER status: This indicates the dog has inherited a recessive allele for a genetic trait or mutation. This is not enough to cause symptoms of the disease, but is important to bear in mind if the dog ever has offspring.

Conditions:

Not AT RISK for any conditions tested.
Not a CARRIER for any conditions tested.

All other health conditions tested

Maggie tested CLEAR for all these conditions:

Clinical

  • MDR1 Drug Sensitivity (MDR1) (Chromosome 14)

Hematologic (Blood)

  • P2Y12 Receptor Platelet Disorder (P2RY12) (Chromosome 23)
  • Factor IX Deficiency, Hemophilia B (F9 Exon 7, Terrier Variant) (Chromosome X)
  • Factor IX Deficiency, Hemophilia B (F9 Exon 7, Rhodesian Ridgeback Variant) (Chromosome X)
  • Factor VII Deficiency (F7 Exon 5) (Chromosome 22)
  • Factor VIII Deficiency, Hemophilia A (F8 Exon 10, Boxer Variant) (Chromosome X)
  • Factor VIII Deficiency, Hemophilia A (F8 Exon 11, Shepherd Variant 1) (Chromosome X)
  • Factor VIII Deficiency, Hemophilia A (F8 Exon 1, Shepherd Variant 2) (Chromosome X)
  • Thrombopathia (RASGRP2 Exon 5, Basset Hound Variant) (Chromosome 18)
  • Thrombopathia (RASGRP2 Exon 8) (Chromosome 18)
  • Thrombopathia (RASGRP2 Exon 5, American Eskimo Dog Variant) (Chromosome 18)
  • Von Willebrand Disease Type II (VWF Exon 28) (Chromosome 27)
  • Von Willebrand Disease Type III (VWF Exon 4) (Chromosome 27)
  • Canine Leukocyte Adhesion Deficiency Type III (LAD3) (FERMT3) (Chromosome 18)
  • Congenital Macrothrombocytopenia (TUBB1 Exon 1, Cavalier King Charles Spaniel Variant) (Chromosome 24)
  • Canine Elliptocytosis (SPTB Exon 30) (Chromosome 8)
  • Cyclic Neutropenia, Gray Collie Syndrome (AP3B1 Exon 20) (Chromosome 31)
  • Glanzmann's Thrombasthenia Type I (ITGA2B Exon 13) (Chromosome 9)
  • Glanzmann's Thrombasthenia Type I (ITGA2B Exon 12) (Chromosome 9)
  • May-Hegglin Anomaly (MYH9) (Chromosome 10)
  • Prekallikrein Deficiency (KLKB1 Exon 8) (Chromosome 16)
  • Pyruvate Kinase Deficiency (PKLR Exon 5) (Chromosome 7)
  • Pyruvate Kinase Deficiency (PKLR Exon 7 Labrador Variant) (Chromosome 7)
  • Pyruvate Kinase Deficiency (PKLR Exon 7 Pug Variant) (Chromosome 7)
  • Pyruvate Kinase Deficiency (PKLR Exon 7 Beagle Variant) (Chromosome 7)
  • Pyruvate Kinase Deficiency (PKLR Exon 10) (Chromosome 7)
  • Trapped Neutrophil Syndrome (VPS13B) (Chromosome 13)
  • Ligneous Membranitis (PLG) (Chromosome 1)

Immunologic (Immune)

  • Complement 3 (C3) deficiency (C3) (Chromosome 20)
  • Severe Combined Immunodeficiency (PRKDC) (Chromosome 29)
  • Severe Combined Immunodeficiency (RAG1) (Chromosome 18)
  • X-linked Severe Combined Immunodeficiency (IL2RG Variant 1) (Chromosome X)
  • X-linked Severe Combined Immunodeficiency (IL2RG Variant 2) (Chromosome X)

Ophthalmologic (Eyes)

  • Progressive Retinal Atrophy - rcd1 Rod-cone dysplasia, rcd1 (PDE6B Exon 21 Irish Setter Variant) (Chromosome 3)
  • Progressive Retinal Atrophy - rcd3 Rod-cone dysplasia, rcd3 (PDE6A) (Chromosome 4)
  • Progressive Retinal Atrophy - CNGA (CNGA1 Exon 9) (Chromosome 13)
  • Progressive Retinal Atrophy - prcd Progressive rod-cone degeneration (PRCD Exon 1) (Chromosome 9)
  • Progressive Retinal Atrophy (CNGB1) (Chromosome 2)
  • Progressive Retinal Atrophy (SAG) (Chromosome 25)
  • Golden Retriever Progressive Retinal Atrophy 1 (SLC4A3) (Chromosome 37)
  • Golden Retriever Progressive Retinal Atrophy 2 (TTC8) (Chromosome 8)
  • Progressive Retinal Atrophy - crd1 (PDE6B) (Chromosome 3)
  • Progressive Retinal Atrophy - crd2 (IQCB1) (Chromosome 33)
  • Progressive Retinal Atrophy - crd4/cord1 (RPGRIP1) (Chromosome 15)
  • Collie Eye Anomaly, Choroidal Hypoplasia (NHEJ1) (Chromosome 37)
  • Day blindness, Achromatopsia, Cone Degeneration (CNGB3 Exon 6) (Chromosome 29)
  • Achromatopsia (CNGA3 Exon 7 German Shepherd Variant) (Chromosome 10)
  • Achromatopsia (CNGA3 Exon 7 Labrador Retriever Variant) (Chromosome 10)
  • Autosomal Dominant Progressive Retinal Atrophy (RHO) (Chromosome 20)
  • Canine Multifocal Retinopathy cmr1 (BEST1 Exon 2) (Chromosome 18)
  • Canine Multifocal Retinopathy cmr2 (BEST1 Exon 5) (Chromosome 18)
  • Canine Multifocal Retinopathy cmr3 (BEST1 Exon 10 Deletion) (Chromosome 18)
  • Canine Multifocal Retinopathy cmr3 (BEST1 Exon 10 SNP) (Chromosome 18)
  • Glaucoma Primary Open Angle Glaucoma (ADAMTS10 Exon 9) (Chromosome 20)
  • Glaucoma Primary Open Angle Glaucoma (ADAMTS10 Exon 17) (Chromosome 20)
  • Glaucoma Primary Open Angle Glaucoma (ADAMTS17 Exon 11) (Chromosome 3)
  • Hereditary Cataracts, Early-Onset Cataracts, Juvenile Cataracts (HSF4 Exon 9 Boston Terrier Variant) (HSF4 Exon 9 Boston Terrier Variant) (Chromosome 5)
  • Primary Lens Luxation (ADAMTS17) (Chromosome 3)
  • Congenital stationary night blindness (RPE65) (Chromosome 6)

Urinary (Kidney and Bladder)

  • 2,8-Dihydroxyadenine (2,8-DHA) Urolithiasis (APRT) (Chromosome 5)
  • Cystinuria Type I-A (SLC3A1) (Chromosome 10)
  • Cystinuria Type II-A (SLC3A1) (Chromosome 10)
  • Cystinuria Type II-B (SLC7A9) (Chromosome 1)
  • Hyperuricosuria and Hyperuricemia or Urolithiasis (SLC2A9) (Chromosome 3)
  • Polycystic Kidney Disease (PKD1) (Chromosome 6)
  • Primary Hyperoxaluria (AGXT) (Chromosome 25)
  • Protein Losing Nephropathy (NPHS1) (Chromosome 1)
  • X-Linked Hereditary Nephropathy (Samoyed Variant 2) (COL4A5 Exon 35) (Chromosome X)
  • Autosomal Recessive Hereditary Nephropathy, Familial Nephropathy (COL4A4 Exon 3) (Chromosome 25)

Multisystem

  • Primary Ciliary Dyskinesia (CCDC39 Exon 3) (Chromosome 34)
  • Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis (CKCSID), Dry Eye Curly Coat Syndrome (FAM83H Exon 5) (Chromosome 13)
  • X-linked Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasia (EDA Intron 8) (Chromosome X)
  • Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND) (FLCN Exon 7) (Chromosome 5)
  • Canine Fucosidosis (FUCA1) (Chromosome 2)
  • Glycogen Storage Disease Type II, Pompe's Disease (GAA) (Chromosome 9)
  • Glycogen Storage Disease Type Ia, Von Gierke Disease (G6PC) (Chromosome 9)
  • Glycogen Storage Disease Type IIIa (GSD IIIa) (AGL) (Chromosome 6)
  • Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A (SGSH Exon 6 Variant 1) (Chromosome 9)
  • Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A (SGSH Exon 6 Variant 2) (Chromosome 9)
  • Mucopolysaccharidosis Type VII, Sly Syndrome (GUSB Exon 5) (Chromosome 6)
  • Mucopolysaccharidosis Type VII, Sly Syndrome (GUSB Exon 3) (Chromosome 6)
  • Glycogen storage disease Type VII, Phosphofructokinase deficiency (PFKM Whippet and English Springer Spaniel Variant) (Chromosome 27)
  • Glycogen storage disease Type VII, Phosphofructokinase deficiency (PFKM Wachtelhund Variant) (Chromosome 27)
  • Lagotto Storage Disease (ATG4D) (Chromosome 20)
  • Neuronal Ceroid Lipofuscinosis 1 (PPT1 Exon 8) (Chromosome 15)
  • Neuronal Ceroid Lipofuscinosis 2 (TPP1 Exon 4) (Chromosome 21)
  • Neuronal Ceroid Lipofuscinosis 1, Cerebellar Ataxia - NCL-A (ARSG Exon 2) (Chromosome 9)
  • Neuronal Ceroid Lipofuscinosis 1 (CLN5 Border Collie Variant) (Chromosome 22)
  • Neuronal Ceroid Lipofuscinosis 6 (CLN6 Exon 7) (Chromosome 30)
  • Neuronal Ceroid Lipofuscinosis 8 (CLN8 English Setter Variant) (Chromosome 37)
  • Neuronal Ceroid Lipofuscinosis (MFSD8) (Chromosome 19)
  • Neuronal Ceroid Lipofuscinosis (CLN8 Australian Shepherd Variant) (Chromosome 37)
  • Neuronal Ceroid Lipofuscinosis 10 (CTSD Exon 5) (Chromosome 18)
  • Neuronal Ceroid Lipofuscinosis (CLN5 Golden Retriever Variant) (Chromosome 22)
  • Adult-Onset Neuronal Ceroid Lipofuscinosis (ATP13A2) (Chromosome 2)
  • GM1 Gangliosidosis (GLB1 Exon 15 Shiba Inu Variant) (Chromosome 23)
  • GM1 Gangliosidosis (GLB1 Exon 15 Alaskan Husky Variant) (Chromosome 23)
  • GM1 Gangliosidosis (GLB1 Exon 2) (Chromosome 23)
  • GM2 Gangliosidosis (HEXB, Poodle Variant) (Chromosome 2)
  • GM2 Gangliosidosis (HEXA) (Chromosome 30)
  • Globoid Cell Leukodystrophy, Krabbe disease (GALC Exon 5) (Chromosome 8)

Other Systems

  • Autosomal Recessive Amelogenesis Imperfecta, Familial Enamel Hypoplasia (Italian Greyhound Variant) (Chromosome 13)
  • Persistent Mullerian Duct Syndrome (AMHR2) (Chromosome 27)

Neurologic (Brain and Spinal Cord)

  • Alaskan Husky Encephalopathy, Subacute Necrotizing Encephalomyelopathy (SLC19A3) (Chromosome 25)
  • Alexander Disease (GFAP) (Chromosome 9)
  • Cerebellar Abiotrophy, Neonatal Cerebellar Cortical Degeneration (SPTBN2) (Chromosome 18)
  • Cerebellar Ataxia, Progressive Early-Onset Cerebellar Ataxia (SEL1L) (Chromosome 8)
  • Cerebellar Hypoplasia (VLDLR) (Chromosome 1)
  • Spinocerebellar Ataxia, Late-Onset Ataxia (CAPN1) (Chromosome 18)
  • Spinocerebellar Ataxia with Myokymia and/or Seizures (KCNJ10) (Chromosome 38)
  • Benign Familial Juvenile Epilepsy, Remitting Focal Epilepsy (LGI2) (Chromosome 3)
  • Degenerative Myelopathy (SOD1A) (Chromosome 31)
  • Fetal-Onset Neonatal Neuroaxonal Dystrophy (MFN2) (Chromosome 2)
  • Hypomyelination and Tremors (FNIP2) (Chromosome 15)
  • Shaking Puppy Syndrome, X-linked Generalized Tremor Syndrome (PLP) (Chromosome X)
  • L-2-Hydroxyglutaricaciduria (L2HGDH) (Chromosome 0)
  • Neonatal Encephalopathy with Seizures (NEWS) (ATF2) (Chromosome 36)
  • Polyneuropathy, NDRG1 Greyhound Variant (NDRG1 Exon 15) (Chromosome 13)
  • Polyneuropathy, NDRG1 Malamute Variant (NDRG1 Exon 4) (Chromosome 13)
  • Narcolepsy (HCRTR2 Intron 6) (Chromosome 12)
  • Progressive Neuronal Abiotrophy (Canine Multiple System Degeneration) (SERAC1 Exon 15) (Chromosome 1)
  • Progressive Neuronal Abiotrophy (Canine Multiple System Degeneration) (SERAC1 Exon 4) (Chromosome 1)

Cardiac (Heart)

  • Dilated Cardiomyopathy (DCM1) (PDK4) (Chromosome 14)
  • Dilated Cardiomyopathy (DCM2) (TTN) (Chromosome 36)
  • Long QT Syndrome (KCNQ1) (Chromosome 18)

Muscular

  • Muscular Dystrophy Cavalier King Charles Spaniel Variant 1 (Chromosome X)
  • Muscular Dystrophy Muscular Dystrophy (DMD Pembroke Welsh Corgi Variant ) (Chromosome X)
  • Muscular Dystrophy Muscular Dystrophy (DMD Golden Retriever Variant) (Chromosome X)
  • Exercise-Induced Collapse (DNM1) (Chromosome 9)
  • Inherited Myopathy of Great Danes (BIN1) (Chromosome 19)
  • Myotonia Congenita (CLCN1 Exon 7) (Chromosome 16)
  • Myotonia Congenita (CLCN1 Exon 23) (Chromosome 16)
  • Myotubular Myopathy 1, X-linked Myotubular Myopathy (MTM1, Labrador Variant) (Chromosome X)

Metabolic

  • Hypocatalasia, Acatalasemia (CAT) (Chromosome 18)
  • Pyruvate Dehydrogenase Deficiency (PDP1) (Chromosome 29)
  • Malignant Hyperthermia (RYR1) (Chromosome 1)

Gastrointestinal

  • Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption (CUBN Exon 53) (Chromosome 2)
  • Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption (CUBN Exon 8) (Chromosome 2)

Neuromuscular

  • Congenital Myasthenic Syndrome (CHAT) (Chromosome 28)
  • Congenital Myasthenic Syndrome (COLQ) (Chromosome 23)
  • Episodic Falling Syndrome (BCAN) (Chromosome 7)

Integument (Skin & Connective Tissues)

  • Dystrophic Epidermolysis Bullosa (COL7A1) (Chromosome 20)
  • Ectodermal Dysplasia, Skin Fragility Syndrome (PKP1) (Chromosome 7)
  • Ichthyosis, Epidermolytic Hyperkeratosis (KRT10) (Chromosome 9)
  • Ichthyosis (PNPLA1) (Chromosome 12)
  • Ichthyosis (SLC27A4) (Chromosome 9)
  • Focal Non-Epidermolytic Palmoplantar Keratoderma, Pachyonychia Congenita (KRT16) (Chromosome 9)
  • Hereditary Footpad Hyperkeratosis (FAM83G) (Chromosome 5)
  • Hereditary Nasal Parakeratosis (SUV39H2) (Chromosome 2)
  • Musladin-Lueke Syndrome (ADAMTSL2) (Chromosome 9)

Skeletal

  • Cleft Lip and/or Cleft Palate (ADAMTS20) (Chromosome 27)
  • Hereditary Vitamin D-Resistant Rickets (VDR) (Chromosome 27)
  • Oculoskeletal Dysplasia 1, Dwarfism-Retinal Dysplasia (COL9A3, Labrador Retriever) (Chromosome 24)
  • Osteogenesis Imperfecta, Brittle Bone Disease (COL1A2) (Chromosome 14)
  • Osteogenesis Imperfecta, Brittle Bone Disease (SERPINH1) (Chromosome 21)
  • Osteogenesis Imperfecta, Brittle Bone Disease (COL1A1) (Chromosome 9)
  • Osteochondrodysplasia, Skeletal Dwarfism (SLC13A1) (Chromosome 14)
  • Skeletal Dysplasia 2 (COL11A2) (Chromosome 12)

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 170 genetic health conditions, breed identification, clinical traits, 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.

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