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Scott Syndrome (German Shepherd Type)

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Test Overview:

Also referred to as hemorrhagic diathesis 'scott syndrome' rare defect seen in the platelet procoagulant activity. Clinical signs of epistaxis, hyphema, intramuscular hematoma, and prolonged bleeding with cutaneous bruising after surgery.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

ANO6

Variant Detected:

g.8912219 G>A

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Brooks, M.B., Catalfamo, J.L., MacNguyen, R., Tim, D., Fancher, S., McCardle, J.A. : A TMEM16F point mutation causes an absence of canine platelet TMEM16F and ineffective activation and death-induced phospholipid scrambling. J Thromb Haemost 13:2240-52, 2015. Pubmed reference: 26414452. DOI: 10.1111/jth.13157.
Jandrey, K.E., Norris, J.W., Tucker, M., Brooks, M.B. : (2012) Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). J Vet Intern Med 26:1402-7, 2012. Pubmed reference: 23061683. DOI: 10.1111/j.1939-1676.2012.01012.x.

Associated Breed(s):

German Shepherd Dog, Mixed Breed, White Swiss Shepherd,

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