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Laboratory:

Genomics

Test Name:

HEMOPHILIA A - FACTOR VIII DEFICIENCY - F8 GENE - (B)

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: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hemo-a

Collection Devices:

Preferred Device:	2 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection EDTA 4 mL NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson & Company Catalogue #: 367861
Alternate Device:	6 - Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Manufacturer: Becton Dickinson & Company Catalogue #: 363706

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.

Referral:

Requisition:

_SH Molecular Diagnostic Lab Test Requisition (R250-10-09)

Reference Values:

An interpretive report from the reference laboratory will be forwarded to the physician.

Availability:

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.