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| Test Name: | MPL Codon 515 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 MPL gene. The most common MPL mutation is the tryptophan 515 at motif RWQFP in exon 10, which occur in 3-4% of ET, 4-8% of IMF, and none in PV. The mutation results in constitutive activation of downstream JAK2/STAT signaling transduction. Identification of this mutation may have both diagnostic and therapeutic significance. |
| Methodology: | PCR-Sanger sequencing analysis of MPL Codon 515 mutation |
| Gene Name: | MPL |
| 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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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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