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Hereditary Nasal Parakeratosis   HNPK Test    Code 254

Test Pricing

For breeds: Labrador Retrievers; Lab/Golden Crosses; Labradoodles & Labradoodle, Australians 

OptiGen is pleased to offer the Hereditary Nasal Parakeratosis (HNPK) test (patent pending EP2666871A1, US20130316345) through licensing with LABOKLIN Laboratories. HNPK is an inherited skin disorder observed in Labrador Retrievers. The first symptoms of hyperparakeratosis appear at the age of six months to one year of age and present as crusty scales on the nose pad. Occasionally painful fissures may also occur, leading to chronic irritation and inflammation of nasal skin. Although the disease is not life-threatening, it is persistent and requires continuous application of moisturizing agents and antibiotics to the afflicted dog’s nose to alleviate symptoms. 

HNPK is inherited as a monogenic autosomal recessive trait, meaning that in order for the disease to occur an offspring must inherit two copies of the mutation– one from each parent. A single nucleotide mutation in the SUV39H2 gene has been identified as the causative genetic defect for HNPK in this breed by Jagannathan et al. The histological observations of HNPK affected Labrador Retrievers indicate that the mutation causes a delay in the differentiation of the specialized cells of the nasal epidermis. No other obvious effects on dog’s health have been reported as being associated with the mutation.  
Prevalence of HNPK mutation

Preliminary data suggest that the frequency of the HNPK mutation is quite high in both European and American populations of Labrador Retrievers, with about 10% of the tested dogs carrying at least one copy of the mutation.

HNPK test

OptiGen’s DNA test for the HNPK mutation detects the presence of 0, 1 or 2 copies of the mutation representing Normal (Clear), Carrier and Affected genotypes, respectively.

Breeding strategies for HNPK mutation

Since this mutation has deleterious effects on nasal skin development in its homozygous state (i.e. when two copies of the mutation are present), it is strongly recommended that carriers of the mutation should only be to a mate that has been DNA tested as Normal/Clear of the mutation. Such a mating will ensure that no affected offspring are produced. Predicted outcomes are described in the chart below. 

Expected results for breeding strategies using the
 
HNPK test

Parent 1

Status

Parent 2 Status

Normal/Clear

Carrier

Affected

Normal/Clear

All = Normal/Clear

1/2 = Normal/Clear

1/2 = Carrier

All = Carrier

Carrier

1/2 = Normal/Clear

1/2 = Carrier

1/4 = Normal/Clear

1/2 = Carrier

1/4 = Affected

1/2 = Carrier

1/2 = Affected

Affected

All = Carrier

1/2 = Carrier

1/2 = Affected

All = Affected

 

References: 

  1. Page´ N, Paradis M, Lapointe JM, Dunstan RW (2003) Hereditary nasal parakeratosis in Labrador Retrievers. Vet Dermatol 14: 103–110.

  2. Jagannathan et al., (2013) A Mutation in the SUV39H2 Gene in Labrador Retrievers with Hereditary Nasal Parakeratosis (HNPK) Provides Insights into the Epigenetics of Keratinocyte Differentiation. PLOS Genetics, 9, e100384.

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Tel: 607 257 0301 · Fax: 607 257 0353 · email: genetest@optigen.com or optigen@clarityconnect.com
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