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Type B PRA (Miniature Schnauzer Type) - SINGLE ASSAY TEST

US$ 75.00 RRP

US$ 50.00 (USER PRICE)

Test Overview:

PLEASE NOTE THAT THIS TEST REQUIRES A BLOOD (EDTA) SAMPLE TO BE SUBMITTED. This is another form of PRA found in the breed - Type B (HIVEP3). PRA-affected dogs typically show a similar sequence of clinical abnormalities in the course of the disease: night blindness followed by progressive loss of day vision and eventual blindness under all light conditions. Routine eye exams reveal the progressive thinning due to degeneration or “atrophy” of the retina, hence the name given to the disease.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

PPT1

Variant Detected:

Complex structural change consisting of duplication of exon 5 with conversion and insertion.

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Leonardo Murgiano, Doreen Becker, Dina Torjman, Jessica K. Niggel, Ausra Milano, Cheryl Cullen, Rui Feng, Fan Wang, Vidhya Jagannathan, Sue Pearce-Kelling, Martin L. Katz, Tosso Leeb, Gustavo D. Aguirre: Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration: GENES, GENOMES, GENETICS February 1, 2019 vol. 9 no. 2 425-437