Search Term: Factor VIII Deficiency
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
Disease Name
Factor VIII Deficiency
Disease Name 2
Hemophilia A
OMIA
437
Gene Name
FVIII
Mutation
c.1412C>G
Mutation 2
c.1643G>A
Mutation 3
p.Cys548Tyr
OMIM
306700
Test Type
Genetic Disease/Disorder
Details
Factor XIII deficiency causes an impaired coagulability of the blood, with a consequential strong tendency to bleed, due to a deficiency of clotting factor VIII. Since the gene for this factor is located on the X chromosome, the disorder is expected to be X-linked.
Details 2
Factor XIII deficiency causes an impaired coagulability of the blood, with a consequential strong tendency to bleed, due to a deficiency of clotting factor VIII. Since the gene for this factor is located on the X chromosome, the disorder is expected to be X-linked.
Published
Hough, C., Kamisue, S., Cameron, C., Notley, C., Tinlin, S., Giles, A., Lillicrap, D. : Aberrant splicing and premature termination of transcription of the FVIII gene as a cause of severe canine hemophilia A: Similarities with the intron 22 inversion mutation in human hemophilia Thrombosis & Haemostasis 87:659-665, 2002. Pubmed reference: 12008949.
Published 2
Lozier, J.N., Nichols, T.C. : Animal Models of Hemophilia and Related Bleeding Disorders. Semin Hematol 50:175-184, 2013. Pubmed reference: 23956467. DOI: 10.1053/j.seminhematol.2013.03.023.
Published 3
Lozier, J.N., Dutra, A., Pak, E., Zhou, N., Zheng, Z.L., Nichols, T.C., Bellinger, D.A., Read, M., Morgan, R.A. : The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion Proceedings of the National Academy of Sciences of the United States of America 99:12991-12996, 2002. Pubmed reference: 12242334. DOI: 10.1073/pnas.192219599.
Body/System/Process
Blood
OMIA Url
Inheritance
XR
Researched Breeds
Boxer
GTPs
Toronto, Ontario
CA
CA
Bad Kissingen, Bavaria
DE
DE
Laboklin Gmbh & Co. KG
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Participation Pending Any Patents Held Supporter
St. Kilda, Victoria
AU
AU
Spokane, Washington
US
US
Paw Print Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation Subsidiary Company
London, Borough of London
GB
GB
Davis, California
US
US
Veterinary Genetics Laboratory
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation
Wageningen
NL
NL
VHL Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing Supporter
Naas, Co. Kildare
IE
IE
Weatherbys Scientific
In House Testing ISO Accredited/LAB ISO Accredited/tests Non-Participant Other Recognized Accreditation Out Sourced Testing Participation Pending Supporter
Vancouver, Washington
US
US
Wisdom Panel - Kinship
HGTD Leadership Sponsor Test Discovery- GTP Other Recognized Accreditation Out Sourced Testing Participation Pending Sponsor
Zagreb
HR
HR