TEST DIRECTORY

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Laboratory:Akiruno

Chromosome 22 (22q11.2 deletion syndrome)

  • TEST NAME SPECIMEN
    REQUIREMENT
    (mL)
    CONTAINER CAP COLOR STORE
    TEMPERATURE
    (STABILITY)
    TURNAROUND
    TIME (DAY)
    METHODOLOGY REFERENCE RANGE
    (UNIT)
  • Ethics Specified days
    Chromosome 22 (22q11.2 deletion syndrome)
    Blood (heparin added)
    3.0
    PH5 Refrigeration
    8-10 FISH

    FISH (Fluorescence in situ hybridization)
    Fluorescence in situ hybridization
    A method of hybridization with target DNA using a probe labeled with a fluorescent dye, and detection of fluorescent sites that are colored at specific wavelengths as signals on chromosomes under a fluorescence microscope.
    There are two methods: a direct method in which a probe labeled with a fluorescent dye is directly bound to the target DNA, and an indirect method in which a probe labeled with a labeling substance is bound to the target DNA, followed by binding of the labeled probe and the fluorescent substance to generate color.

COMMENT


Avoid freezing.
Acceptable days are Monday through Friday.
Please make your request with the name of the relevant disease. This test does not detect genes directly involved in the disease, but rather determines the presence or absence of deletions in the responsible region.
Please consult with us if the required sample volume is not met for neonatal blood collection.

-About Submission of Chromosome Testing
Submit the specimen on the same day after collection.

Subject to ethical guidelines (see below)

Collect blood in the container shown below, mix well, and preserve refrigerated.

CONTAINER

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