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| Test Name: | JAK2 V617F Mutation Detection |
| Compliance: | LDT |
| Test Description: | Polycythemia Vera (PV), Essential Thrombocythemia (ET), and Idiopathic Myelofibrosis (IMF) are BCR/ABL1 fusion negative and may carry somatic mutations on Janus kinase 2 (JAK2). The most common mutation is the point mutation at V617F in the pseudokinase domain of JAK2 gene, which can be found in 95% of PV, 35%-70% of ET, and 50% of IMF patients. This mutation results in constitutive activation of the JAK2 tyrosine kinase. Identification of this mutation may have both diagnostic and therapeutic significance. |
| Methodology: | Allele-specific PCR and PCR-RFLP analysis |
| Gene Name: | JAK2 |
| Protein Name: | |
| Specimen Requirements: | EDTA Leukemic Blood / EDTA Bone Marrow (5mL) |
| Storage Condition: | Ambient Temperature / 4℃ (if overnight is needed) |
| Turn Around Time: | 5 working days from day of specimen received |
| OMIM: | |
| Genetic Home Reference: | |
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Non-disclosure and Complaints
All data/information generated from within/related to HKMPDC and our customers are treated in strict confidence in accordance with the Personal Data (Privacy) Ordinance of Hong Kong. If you have a complaint, please contact us at the (852) 2986 1213 or email us at contact@hk-mpdc.com. All communications with HKMPDC would be dealt with in strict confidence.
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This notice describes how medical information about you may be used and disclosed.
Personal health information or related information released to HKMPDC relating to the services requested may be subjected to re-disclosure by HKMPDC to health care providers, such as doctors, nurses, and others involved in the delivery of the services.
We may also disclose medical information about you to authorised public health or government officials for public health activities as required by law and accreditation body.
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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