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Test Name: | JAK2 Exon 12 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). Deletion/insertion/duplication/point mutations in exon 12 of JAK2 gene results in constitutive activation of the JAK2 tyrosine kinase. Identification of this mutation may have both diagnostic and therapeutic significance. |
Methodology: | PCR-Sanger sequencing analysis of JAK2 Exon 12 mutation |
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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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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