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Laboratory：Akiruno

○Genetic test (Intellectual disability and epilepsy group)〔WES〕

CODE：☆

  • TEST NAME SPECIMEN
    REQUIREMENT
    （ｍL）     CONTAINER CAP COLOR STORE
    TEMPERATURE
    (STABILITY)     TURNAROUND
    TIME (DAY)     METHODOLOGY REFERENCE RANGE
    (UNIT)
  • Ethics
    Genetic test (Intellectual disability and epilepsy group)〔WES〕
    Blood (EDTA-2Na added)
    7.0
    PN7 Refrigeration
    （3 days）
     Please contact us in advance. Next Generation Sequencing (NGS)

    A method that uses a next-generation sequencer to simultaneously determine the base sequences of a huge number of DNA fragments.

COMMENT


￡　When requesting this item, please obtain a POLALIS account ID in advance, which is the request system.
In this item, we will use a next-generation sequencer to sequence the gene regions where probe enrichment was performed. Next, for protein-coding exon regions, differences between the patient's sequence and the human genome reference sequence (GRCh38/hg38) will be extracted, and based on the registration information in the gnomAD database, variants that are not registered in the database or have a minor allele frequency of less than 1% (SNVs, short indels) will be reported. In addition, the classification of variants in the ClinVar database will be included in the report for your reference.
Please avoid freezing storage.
Please avoid duplicate requests with other items. With this testing method, the influence of contamination is greater, so please be careful when collecting the specimen.

Subject to ethical guidelines (Refer to following)

-About genetic test (WES)
This test can only be requested from medical institutions that have submitted a notification of the standards set forth in Note 2 of Genetic Test (D006-4) to the Directors General of the Regional Bureaus of Health and Welfare, etc.

-Disclaimer
・This item does not deny the existence of variants that are difficult to detect.
・Variants in the UTR and intron regions are not subject to detection. In addition, mosaic variants and variants in regions where probe enrichment is difficult and where the redundancy of reads excluding duplicates is less than 10 are not included in the report.
・Classification of variants in the ClinVar database is based on the information in the database at the time of testing, and the database version information will be included in the report.br>
Collect blood in the container shown below, mix thoroughly, and store in the refrigerator.

CONTAINER

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