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Breeds Affected: Border Collie

Samples Accepted: Blood, Buccal Swabs

Disease Information: Trapped Neutrophil Syndrome is also known as Neutropenia or Cohen Syndrome. Affected pups may have an elongated “ferret shape” skull and be smaller than their littermates. Their immune system is compromised which may lead to chronic infections.

Test Information: This mutation test identifies a 4 base pair deletion in exon 19 of the VPS13B gene. Animals which have two copies of this allele are affected with CA, and animals with one copy are carriers which appear normal.

Shearman, JR., Wilton, AN. : A canine model of cohen syndrome: trapped neutrophil syndrome. BMC Genomics 12:258, 2011. Pubmed reference: 21605373.
DOI: 10.1186/1471-2164-12-258.

Further information is available at the Online Mendelian Inheritance in Animals website.

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