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| Test Name: | Haemophilia A Intron Inversion Detection |
| Compliance: | RUO |
| Test Description: | Hemophilia A (HA) is the most common hereditary bleeding disorder. It is an X-linked recessive disease arising from a defect in the factor VIII (FVIII) gene leading to a deficiency in FVIII clotting activity. Large DNA inversions interrupting intron 22 of the FVIII gene (Inv22) and splitting the FVIII gene into 2 opposite parts are the most frequent defect that leads to HA. |
| Methodology: | Factor 8 (F8) gene intron 22-A and intron 1 inversions is detected by inverse PCR |
| Gene Name: | F8 |
| Protein Name: | |
| Specimen Requirements: | EDTA Blood (10mL) |
| Storage Condition: | Ambient Temperature / 4℃ (if overnight is needed) |
| Turn Around Time: | 14 working days from day of specimen received |
| OMIM: | |
| Genetic Home Reference: | |
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Copyright © 2013 香港分子病理檢驗中心 Hong Kong Molecular Pathology Diagnostic Centre Limited (HKMPDC). All Rights Reserved.
Information Updated 1 July, 2023.
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