Full details for "Haemostasis Mutational Analysis (Inherited Bleeding Disorders)". | |
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Name |
Haemostasis Mutational Analysis (Inherited Bleeding Disorders) |
Alternative name/Profile |
Haemophilia, Hemophilia, Inherited Bleeding Disorders, Familial Analysis, Mutational analysis for inherited Factor VIII or Factor IX deficiency, Inherited factor deficiencies, Factor VIII, Factor 8 gene, Factor IX, Factor 9 gene, Fibrinogen, FGA gene, FGB gene, FGG gene, Antithrombin, SerpinC1 gene, Factor X, Factor 10 gene, Factor XI, Factor 11 gene, MYH9-RD, MYH9 gene, HHT, ACVRL1 gene, ENG gene, GDF2 gene, SMAD4 gene |
Department |
Haematology |
Investigation |
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Specimen type |
Peripheral blood |
Sample type |
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Sample container & volume |
2 x 4ml purple EDTA |
Frequency of analysis |
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Turnaround time |
Mutation screening - 12 weeks. Carrier and confirmation analysis (known mutation) - 4 weeks. For rare disorders discuss directly with Molecular Biologist at 01 4284640 |
Availability |
Requests are restricted to patients referred from a Haemophilia Comprehensive Care Centre or as agreed upon by a Consultant Haematologist. Please discuss with National Coagulation Centre Consultant at 01 4162141. |
Notes |
Contact Medical Team, National Coagulation Centre at 4162141. Requests are restricted to patients referred from a Haemophilia Comprehensive Care Centre or as agreed upon by a Consultant Haematologist. Counseling and consent required before testing. Samples must be received in the laboratory within 7 days of phlebotomy. For urgent requests please contact laboratory at 01 4284640. |
Related links |
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Reference range |
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Last updated |
Wed, 07 Feb 2018 11:01:54 GMT |