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)
A method for exponentially amplifying the target DNA region by using the fact that DNA dissociates from double-stranded DNA to single-stranded DNA by heating and returns to double-stranded DNA by cooling, binding the target primer to single-stranded DNA as a template, and repeatedly performing DNA synthesis by the transcription reaction of DNA polymerase.
COMMENT
Avoid freezing.
Please avoid duplicate requests of other items. Since the affects of contamination are greater in this test method, please handle specimens with care when collecting them.
It is intended for the mutation analysis of the JAK2 (V617F, exon 12), MPL (W515L, W515K), and CALR (types I to V) genes.
If there are mutations not targeted for detection, they may affect PCR and hybridization reactions. Therefore, specimens with such mutations may not yield accurate results.
About Submission of Hematopoietic Tumor Genetic Tests Submit the specimen on the same day after collection.
Collect blood in the container shown below, mix well, and preserve refrigerated.
Please avoid duplicate requests of other items.
Since the affects of contamination are greater in this test method, please handle specimens with care when collecting them.
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。