Laboratory:Akiruno
- TOP
- gene-related test
- genetic tests for hematopoietic tumor
- MPN gene mutation analysis
Laboratory:Akiruno
○MPN gene mutation analysis
CODE:0R625 0
-
TEST NAME
SPECIMEN
REQUIREMENT
(mL) CONTAINER CAP COLOR STORE
TEMPERATURE
(STABILITY) TURNAROUND
TIME (DAY) METHODOLOGY REFERENCE RANGE
(UNIT) -
MPN gene mutation analysis
Blood (EDTA-2Na added)
5.0
PN5
(3 days)
4-8 PCRNo mutations detectedPCR (Polymerase chain reaction)
Uses the fact that DNA dissociates from double strands to single strands when heated and returns to double strands when cooled, and binds the desired primer using single stranded DNA as a template. A method in which the target DNA region is exponentially amplified by repeatedly performing DNA synthesis using the transcription reaction of DNA polymerase.
COMMENT
Avoid freezing.
Please avoid duplicate requests with other items. This testing method increases the influence of contamination, so please be careful when handling the specimen.
Mutation analysis of JAK2 gene (V617F, exon12), MPL gene (W515L, W515K), and CALR gene (type I to V) The purpose is
If there is a mutation that is not targeted for detection, it may affect the PCR reaction and hybridization reaction. Therefore, accurate judgment results may not be obtained from samples with such mutations.
About submission of hematopoietic tumor genetic testing Please submit the specimen on the same day after collection.
Collect blood into the container shown below, mix well, and store in the refrigerator.
Please avoid duplicate requests with other items.
This testing method increases the influence of contamination, so please be careful when handling the specimen.
CONTAINER
PN5 旧容器記号 C C3 4
EDTA-2Na入り (真空採血量5mL)
内容:EDTA-2Na 7.5mg
貯蔵方法:室温
有効期間:製造から2年
supplementary information
MPN遺伝子変異解析の検出対象
報告対象 | 遺伝子 | エクソン | 検出対象変異 (アミノ酸) |
---|---|---|---|
JAK2 V617F | JAK2 | 14 | V617F |
JAK2 exon12 (※) | 12 | N542_E543del | |
E543_D544del | |||
R541_E543>K | |||
F537_K539>L | |||
K539L (TT) | |||
K539L (CT) | |||
MPL W515L | MPL | 10 | W515L |
MPL W515K | W515K | ||
CALR typeⅠ | CALR | 9 | L367fs*46 |
CALR typeⅡ | K385fs*47 | ||
CALR typeⅢ | L367fs*48 | ||
CALR typeⅣ | K368fs*51 | ||
CALR typeⅤ | E364fs*46 |
(※) 検出対象毎には報告いたしません。