Laboratory：Akiruno
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- Dystrophin DNA
Laboratory：Akiruno
○Dystrophin DNA
CODE：06236 3
-
TEST NAME
SPECIMEN
REQUIREMENT
（ｍL） CONTAINER CAP COLOR STORE
TEMPERATURE
(STABILITY) TURNAROUND
TIME (DAY) METHODOLOGY REFERENCE RANGE
(UNIT) -
Dystrophin DNA
Blood (EDTA-2Na added)
7.0
PN7
12-16 MLPANo gene deletions or duplications observedMLPA (Multiplex ligation-dependent probe amplification)
A method in which a specific probe fused with a common PCR primer sequence is hybridized to a labeled region, followed by PCR, and quantitative changes in the amplified product are used to detect relatively large genome deletions or duplications.
COMMENT
Avoid freezing. It will analyze all 79 regions of the dystrophin gene for deletions and duplications. Note that it cannot analyze DMD gene mutations other than exon deletions and duplications, which are minor deletions, duplications, insertions, single nucleotide substitutions, and splice mutations. In addition, if a mutation is detected only in a single exon, it may be a mismatch sequence such as a single nucleotide substitution. Since the affects of contamination are greater in this test method, please handle specimens with care when collecting them.
Subject to ethical guidelines (see below)
Collect blood in the container shown below, mix well, and preserve refrigerated.
Since the affects of contamination are greater in this test method, please handle specimens with care when collecting them.
CONTAINER
PN7 旧容器記号 A 4
EDTA-2Na入り (真空採血量7mL)
内容：EDTA-2Na 10.5mg
貯蔵方法：室温
有効期間：製造から2年
