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Griscelli Syndrome Type 1

$50

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Test Overview:

Autosomal recessive disease that affects dogs. It is characterised by pigmentary dilution, large clumps of pigment in hair and accumulation of melanosomes. Affected dogs will usually exhibit coat colour dilution and a silver/gray sheen, and may also display neurological abnormalities.

Category:

Trait (Associated with Phenotype)

Gene:

MYO5A

Variant Detected:

c.4973_4974insA

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the MYO5A gene will reliably determine if a dog is a genetic carrier of Griscelli Syndrome Type 1.

Research Citation(s):

Christen, M., de le Roi, M., Jagannathan, V., Becker, K., Leeb, T. : MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1. Genes (Basel) 12:1479, 2021. Pubmed reference: 34680875.

Associated Breed(s):

Mixed Breed,
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