Use of a direct-to-consumer genetic screening test for diagnosis of a chromosomal abnormality in a female dog

  • Jenna Dockweiler Embark Veterinary, Inc., Boston, MA, USA
  • Valeria Rickard North Oatlands Animal Hospital, Leesburg, VA, USA
  • Daniel Leon-Frank North Oatlands Animal Hospital, Leesburg, VA, USA
  • Christopher Premanandan Department of Veterinary Biosciences, College of Veterinary Medicine, The Ohio State University Columbus, OH, USA
  • Adam Boyko Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, NY, USA
  • Takeshi Kawakami Embark Veterinary, Inc., Boston, MA, USA
Keywords: Microarray, chromosomal anomaly, genetic, genetic test, DNA test

Abstract

A 3-year phenotypically female Siberian husky with primary anestrus, was screened for known genetic diseases using a direct-to-consumer saliva test. Dog had 2 distinct genetic profiles, suggesting a chimera or mosaic condition, ultimately confirmed with cytogenetic analysis. Histopathology of the intraabdominal gonads revealed hypoplastic testicular and epididymal tissue. This case highlights the utility of a novel test that is both inexpensive and noninvasive to diagnose chromosomal anomalies in dogs.

Downloads

Download data is not yet available.

References

1. Szczerbal I, Switonski M: Clinical cytogenetics of the dog: a review. Animals 2021;11:947. doi: 10.3390/ani11040947

2. Levy B, Burnside RD: Are all chromosome microarrays the same? What clinicians need to know. Prenat Diagn 2019;39:157–164. doi: 10.1002/pd.5422

3. Madan K: Natural human chimeras: a review. Eur J Med Genet 2020;63:103971. doi: 10.1016/j.ejmg.2020.103971

4. Meyers-Wallen VN: Gonadal and sex differentiation abnormalities of dogs and cats. Sex Dev 2012;6:46–60. doi: 10.1159/000332740

5. Bennett NE, Johnson EA, Gray PB: Veterinary care providers recognize clinical utility of genetic testing but report limited confidence in interpreting direct-to-consumer results. Am J Vet Res 2024. 2024;86:e0265 doi: 10.2460/ajvr.24.09.0265
Published
2025-11-20
How to Cite
Dockweiler , J., Rickard , V., Leon-Frank , D., Premanandan , C., Boyko , A., & Kawakami , T. (2025). Use of a direct-to-consumer genetic screening test for diagnosis of a chromosomal abnormality in a female dog. Clinical Theriogenology, 17. https://doi.org/10.58292/CT.v17.12703
Section
Case Reports