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Laboratory: Genomics
Test Name:
Test Code: MD
Clinical Information:
Comprehensive testing offered through "National Program for Hemophilia Mutation Testing" at Queen’s University.  Testing includes common inversion, deletion/duplication, sequencing of the gene and promoter as indicated by the severity of factor VIII deficiency.  Testing is considered INVESTIGATIONAL and is done through a RESEARCH protocol.  
Testing for confirmation of clinical diagnosis of factor VIII deficiency.  Family history consistent with X-linked pattern of inheritance.  Carrier testing only available for patients with documented positive family history or confirmed 1st degree relative with clinically confirmed factor VIII deficiency.  All out-of-province testing subjected to final laboratory approval.  For all prenatal testing, please contact Laboratory to determine sample requirements.
For more information, see:
Collection Devices:
Specimen Required:
Blood: 8.0 mL
Pediatric Blood: 3.0 mL

Specimen must be kept at room temperature. Pediatric volume for infants only.  For prenatal diagnosis, contact laboratory for approval and to obtain specimen requirements.
Reference Values:
An interpretive report from the reference laboratory will be forwarded to the physician.
Extracted DNA is forwarded to an out-of-province laboratory for testing. Turnaround time is estimated to be 12 to 14 weeks. For milder presentation, test results may be delayed.
See Also:
More Information:
Do NOT centrifuge.  Ship blood samples at room temperature to Health Sciences Centre - MS5.  Extracted DNA will be forwarded for testing to a reference laboratory.  Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).