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Laboratory：Akiruno

○Dystrophin gene analysis (Duchenne muscular dystrophy and Becker muscular dystrophy)

CODE：06236 3

  • TEST NAME SPECIMEN
    REQUIREMENT
    （ｍL）     CONTAINER CAP COLOR STORE
    TEMPERATURE
    (STABILITY)     TURNAROUND
    TIME (DAY)     METHODOLOGY REFERENCE RANGE
    (UNIT)
  • Ethics
    Dystrophin gene analysis (Duchenne muscular dystrophy and Becker muscular dystrophy)
    Blood (EDTA-2Na added)
    2.0
    PN2,PN5 Refrigeration
     12-23 MLPA

    MLPA (Multiplex ligation-dependent probe amplification)
    After hybridizing a specific probe fused with a common PCR primer sequence to the labeled region, PCR is performed, and quantitative changes in the amplified products are investigated using a relatively large genome. Methods for detecting deletions or duplications.

     No gene deletions or duplications observed

COMMENT


Avoid freezing. All 79 regions of the dystrophin gene will be analyzed for deletion and duplication mutations. Please note that we cannot analyze DMD gene mutations other than exon deletions and duplications, including minute deletions, duplications and insertions, single nucleotide substitutions, and splice mutations. Additionally, if a mutation is detected only in a single exon, it may be a mismatched sequence such as a single nucleotide substitution. This testing method increases the influence of contamination, so please be careful when handling the specimen.
Ethical guidelines (see below)
Collect blood into the container shown below, mix well, and store in the refrigerator.
This testing method increases the influence of contamination, so please be careful when handling the specimen.

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