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May-Hegglin Anomaly (Pug Type)

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Test Overview:

May-Hegglin Anomaly is an inherited blood cell disorder. The condition is diagnosed with a microscopic examination of a blood smear and is characterised by the three key features of the presence of large platelets (macrothrombocytes), abnormal neutrophils containing structures called Inclusion Bodies, and reduced numbers of normal sized Platelets in the blood (thrombocytopenia. Symptoms can include reduced numbers of platelets (normal sized), together with the presence of larger and abnormal platelets.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

Myosin heavy chain 9 (MYH9) on Chromosome 10

Variant Detected:

Base Substitution c.5600G>A p.Glu1842Lys chr10:28120346 (canFam3): G>A

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 Dominant

Recommended Screening:

Genetic testing of the MYH9 gene will reliably determine if a dog is a genetic carrier of May-Hegglin anomaly.

Research Citation(s):

Flatland B, Fry MM, Baek SJ, Bahn JH, LeBlanc CJ, Dunlap JR, Carroll RC, Kosiba DJ, Millsaps DJ, Schleis SE. May-Hegglin anomaly in a dog. Vet Clin Pathol. 2011 Jun; 40(2):207-14. [PubMed: 21554370]

Associated Breed(s):

Mixed Breed, Pug,

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