Degenerative Myelopathy – PCR

Result: Genotype N/N (exon 2)

Interpretation: The examined animal is homozygous for the wildtype-allele. It does not carry the high-risk factor for DM in exon 2 of the SOD1-gene.

Trait of inheritance: autosomal-recessive

Please note: In the Bernese Mountain Dog breed the mutation in exon 1 of the SOD1-gene also occurs in correlation with DM.

Hyperuricosuria – PCR

Result: Genotype N/N

Interpretation: The examined animal is homozygous for the wildtype-allele. It does not carry the causative mutation for HUU in the SLC2A9-gene.

Trait of inheritance: autosomal-recessive

Brachyuria – PCR

Result: Genotype N/N

Interpretation: The examined animal is homozygous for the wildtype-allele. It does not carry the causative mutation for brachyury.

Trait of inheritance: autosomal-dominant

Collie Eye Anomaly (CEA) – PCR

Result: Genotype N/N

Interpretation: The examined animal is homozygous for the wildtype-allele. It does not carry the causative mutation for CEA in the NHEJ1-gene. Trait of inheritance: autosomal-recessive

Scientific studies found correlation between the mutation and symptoms of the disease in the following breeds: Australian Kelpie and Shepherd, Bearded Collie, Border Collie, Boykin Spaniel, Hokkaido, Lancashire Heeler, Longhaired Wippet, Nova Scotia Duck Tolling Retriever, Rough/Smooth Collie, Shetland Sheepdogs, Silken Windhound

MDR1 gene variant – PCR

Result: Genotype N/N (+/+)

Interpretation: The examined animal is homozygous for the wildtype-allele. It does not carry the causative mutation for MDR in the ABCB1-gene. Trait of inheritance: autosomal-recessive

Scientific studies found correlation between the mutation and symptoms of the disease in the following breeds: Australian Shepherd, Border Collie, Elo, German Shepherd, Longhaired Whippet, McNab, Old English Sheepdog, Rough/Smooth Collie, Shetland Sheepdog, Silken Windhound, Wäller, White Shepherd

Please note: in individual cases, heterozygous dogs can show clinical signs!

The DNA-test is run according to the publication of Mealey et al. (2001) „Ivermectin sensitivity in collies is associated with a deletion mutation of the mdr1 gene.“ and detects the mutation MDR1 nt230 (del4).

Progressive Retinal Atrophy (prcd-PRA) – PCR

Result: Genotype N/N (A)

Interpretation: The examined animal is homozygous for the wildtype-allele. It does not carry the causative mutation for prcd-PRA in the PRCD-gene.

Trait of inheritance: autosomal-recessive

Scientific studies found correlation between the mutation and symptoms of the disease in the following breeds: Australian cattle dog, American Cocker Spaniel, American Eskimo Dog, Australian Shepherd, Australian Stumpy Tail Cattle Dog, Barbet, Bearded Collie, Bolognese, Bolonka Zwetna, Chesapeake Bay Retriever, Chihuahua, Chinese Crested, English Cocker Spaniel, English Shepherd, Entlebucher Mountain Dog, Finnish Lapphund, German Spitz, Giant Schnauzer, Golden Retriever, Jack Russell Terrier, Karelian Beardog, Kuvasz, Lagotto Romagnolo, Lapponian Herder, Labrador Retriever, Markiesje, Norwegian Elkhound, Nova Scotia Duck Tolling Retriever, Parson Russell Terrier, Portugese Water Dog, Poodle, Schipperke, Swedish Lapphound, Silky Terrier, Spanish Water Dog, Swedish Lapphund, Wäller, Yorkshire Terrier.

Neuronal Ceroid Lipofuszinosis

Result: Genotype N/N

Interpretation: The examined animal is homozygous for the wildtype-allele. It does not carry the causative mutation for NCL in the CLN6-gene.

Trait of inheritance: autosomal-recessive

Scientific studies found correlation between the mutation and symptoms of the disease in the following breeds: Australian Shepherd Please note:

nomenclature of this variant was changed from CLN8 to CLN6 at 25/04/19

Neuronale Ceroid Lipofuszinose (NCL) adult onset – PCR

Result: Genotype N/N

Interpretation: The examined animal is homozygous for the wildtype-allele. It does not carry the causative mutation for NCL in the CLN8-gene.

Trait of inheritance: autosomal-recessive

Scientific studies found correlation between the mutation and symptoms of the disease in the following breeds: Australian Shepherd

Hereditary Cataract – PCR

Result: Genotype N/N

Interpretation: The examined animal is homozygous for the wildtype allele. It does not carry the risk factor for hereditary cataract in the HSF4 gene.

Trait of inheritance: unknown

Scientific studies found correlation between the mutation and symptoms of the disease in the following breeds: Australian Shepherd, Wäller