DNA Genetic Health Testing
We Take It Seriously…
Wow-That’s A Lot Of Testing
GENETIC TESTING
THIS IS BY FAR THE MOST IMPORTANT TESTING WE DO HERE AT LAKESHORE. Genetic testing can give amazing insight into health issues such as:
Drug sensitivity
Blood issues
Endocrine issues (Hormones)
Immune System Issues
Ophthalmologic (Eyes)
Kidney and Bladder
Multisystem Issues
Neurologic (Brain and Spinal Cord Issues)
Cardiac (Heart)
Muscular
Metabolic
Gastrointestinal
Neuromuscular
Integument (Skin and Connective Tissue)
Skeletal
There can be upwards of 170 different genetic issues tested per dog – they are graded as either affected, carrier, or clear.
Affected – means the dog has the genes to develop this disease and could only be bred with a clear dog. Their offspring will be carriers but will not develop the disease
Carrier – means the dog has a gene but will not develop the disease. This can can be bred very safely to another dog who is clear. If this combination occurs no puppies in the litter will be affected.
Clear – means this dog is completely clear of that disease and can be bred with all others.
Many of the genetic issues can be debilitating or deadly.
What To Expect At The First Vet Appointment
Different veterinarians will offer different options at your first visit, but we will include the basics so that you will be prepared.
You should always take a stool sample with you when you go to your appointment, even if you have done so previously and have gotten a negative result. You only need a small sample that you can take in any covered container or even a Ziploc bag.
When they check the stool sample and give you the result of negative – you should realize that this does not mean that your puppy does not have worms. It only means that they did not see any in that particular sample. When the vet looks at your sample they are actually searching for eggs from the worms – not always the worms themselves. If the worms were not shedding eggs you will not get a positive result even though the pup maybe loaded with worms.
You should feel confident that the puppy is worm free after several stool samples in a row have been negative and the pup is showing no signs of parasite infestation. These signs can be weight loss, poor coat, diarrhea, bloody stool, poor appetite, lack of energy, etc…
Your puppy may not be ready for a second vaccination at the first visit. Check the date that your puppy had it’s first shot and do not let him be revaccinated for another 3-4 weeks from that date.
Your vet will listen to the puppies heart in order to rule out heart murmurs. It is possible for your vet to hear a murmur that our vet did not hear. This can happen due to stress or just timing. Most heart murmurs go away within a short time if they are detected.
Heart murmurs are not common but it is a possibility. They will also look in their eyes and do a complete physical examination.
Your vet will probably discuss heartworm and flea prevention products with you. If you have not had a dog for several years, you might not be aware of the growing risk of heartworm in dogs.
Heartworm is transmitted by the common mosquito and is a dangerous and life-threatening disease. Ask your vet about the prevalence of heartworm in the area you live before deciding if you will give it to your puppy or not. Different areas of the country are more likely to have this problem than others. Fleas are much more common in every area of the country and some sort of prevention will be necessary.
You have a wide range of choices for fleas that you can discuss with your vet from natural products like brewers yeast and garlic tablets, monthly topical chemicals, monthly pills or sprays and powders. Ask questions and find the best option for you and your pet.
Many of the monthly flea and or heartworm prevention products will also help to eliminate or prevent other pests like ear mites and other intestinal worms. Be sure to ask about these benefits as well when you are choosing the right product.
GENETIC DNA TESTING:
We are currently using Embark and Paw Print Genetics to DNA test our dogs for specific diseases. Each breed has it’s own set of common genetic issues – and many others that are either not breed specific or less common. We are currently working on doing different genetic studies on each dog in our breeding program. Some of our dogs are clear on OVER 150 DIFFERENT GENETIC TESTS! Any dog that is not clear will either be bred to a dog that will not pass that genetic disease down to the puppies or they will be eliminated from our program completely if the puppies would inherit the genetic issue.
GENETIC TESTING BY EMBARK:
We will not explain each genetic issue below – but will simply list what Embark tests for so you can gain a better understanding of just how serious we are about Health Concerns!
Not every dog in our program has all of the following health tests done…. Each dog’s testing is marked with their information on our site. WE ARE WORKING ON GETTING EVERYONE DONE!
MDR1 Drug Sensitivity (MDR1) (Chromosome 14)
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)
Von Willebrand Disease Type I (VWF) (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 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)
Congenital Hypothyroidism (TPO, Tenterfield Terrier Variant) (Chromosome 17)
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)
Progressive Retinal Atrophy – rcd1 Rod-cone dysplasia, rcd1 (PDE6B Exon 21 Irish Setter Variant) (Chromosome 3)
Progressive Retinal Atrophy Rod-cone dysplasia, rcd1a (PDE6B Exon 21 Sloughi 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 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)
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 12) (Chromosome 3)
Hereditary Cataracts, Early-Onset Cataracts, Juvenile Cataracts (HSF4 Exon 9 Boston Terrier Variant) (Chromosome 5)
Hereditary Cataracts, Early-Onset Cataracts, Juvenile Cataracts (HSF4 Exon 9 Shepherd Variant) (Chromosome 5)
Primary Lens Luxation (ADAMTS17) (Chromosome 3)
Congenital stationary night blindness (RPE65) (Chromosome 6)
Macular Corneal Dystrophy (MCD) (CHST6) (Chromosome 5)
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 I-A (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)
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)
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 Exon 21) (Chromosome 27)
Glycogen storage disease Type VII, Phosphofructokinase deficiency (PFKM Exon 8) (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 Exon 4 Variant 1) (Chromosome 22)
Neuronal Ceroid Lipofuscinosis 6 (CLN6 Exon 7) (Chromosome 30)
Neuronal Ceroid Lipofuscinosis 8 (CLN8 Exon 2) (Chromosome 37)
Neuronal Ceroid Lipofuscinosis (MFSD8) (Chromosome 19)
Neuronal Ceroid Lipofuscinosis (CLN8) (Chromosome 37)
Neuronal Ceroid Lipofuscinosis 10 (CTSD Exon 5) (Chromosome 18)
Neuronal Ceroid Lipofuscinosis (CLN5 Exon 4 Variant 2) (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)
Autosomal Recessive Amelogenesis Imperfecta (Italian Greyhound Variant) (Chromosome 13)
Persistent Mullerian Duct Syndrome (AMHR2) (Chromosome 27)
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)
Juvenile Laryngeal Paralysis and Polyneuropathy (RAB3GAP1) (Chromosome 19)
Hereditary Sensory Autonomic Neuropathy (HSAN), Acral Mutilation Syndrome (GDNF-AS) (Chromosome 4)
Juvenile-Onset Polyneuropathy, Leonberger Polyneuropathy 1 (LPN1, ARHGEF10) (Chromosome 16)
Dilated Cardiomyopathy (PDK4) (Chromosome 14)
Long QT Syndrome (KCNQ1) (Chromosome 18)
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)
Centronuclear Myopathy (PTPLA) (Chromosome 2)
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) (Chromosome X)
Hypocatalasia, Acatalasemia (CAT) (Chromosome 18)
Pyruvate Dehydrogenase Deficiency (PDP1) (Chromosome 29)
Malignant Hyperthermia (RYR1) (Chromosome 1)
Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption (CUBN Exon 53) (Chromosome 2)
Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption (CUBN Exon 8) (Chromosome 2)
Congenital Myasthenic Syndrome (CHAT) (Chromosome 28)
Congenital Myasthenic Syndrome (COLQ) (Chromosome 23)
Episodic Falling Syndrome (BCAN) (Chromosome 7)
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)
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)
Craniomandibular Osteopathy (CMO) (SLC37A2) (Chromosome 5)G