Bleeding Disorders Laboratory

Bloodworks Northwest performs molecular testing to identify genetic variants in Hemophilia A, Hemophilia B, and von Willebrand disease. These molecular tests, along with our considerable technical and medical expertise, are powerful tools that aid in diagnosis.

Request for Testing – Bleeding Disorders Lab

Request for Testing – Hemophilia Alliance Testing Program

Test Descriptions:

• DNA Factor 8 Inversion
  • F8 Intron 1 and Intron 22 inversions, with reflex to Hem A Evaluation, for patients with severe familial Hem A or patients with unknown familial history/severity
• DNA Hemophilia A Mutation Evaluation
  • Hem A Evaluation, for mild to moderate Hem A patients with unknown familial variant
• DNA Hemophilia B Mutation Evaluation
  • Hem B Evaluation, for all Hem B patients with unknown familial variant
• Genotype for known Hemophilia/VWD mutation
  • Targeted testing for known familial variant (F8, F9, and VWF)
• DNA Von Willebrand Disease Type 2A/2B/2M
  • VWD Type 2A/2B/2M: VWF exon 28, with reflex to VWD Evaluation
• DNA Von Willebrand Disease Type 2N
  • VWD Type 2N: VWF exons 4, 9, 18-21, 24, 25, & 27, with reflex to VWD Evaluation
• DNA Von Willebrand Disease Evaluation
  • VWD Evaluation, all 52 VWF exons

Lab Information:

• Genetic testing on cultured amniocytes for hemophilia A, hemophilia B, von Willebrand disease
• Reference laboratory service used for clinical studies and trials, including development of novel assays and use of research-based assays.
• Phone consultation to discuss laboratory results or approach to testing is available.  Drs. Konkle and Johnsen have decades of experience in interpretation of coagulation testing and application to clinical decision making.
• Genomics laboratory services for clinical studies contact:
  • Shelley Fletcher, Laboratory Manager