TEST DIRECTORY

COMMENT

Please obtain an account ID for the ordering system POLALIS prior to submit a request for this test item
In this test, sequencing is performed using a next-generation sequencer. Variants located in the UTR and intron regions are excluded in the detection targets. This test does not exclude the possibility of variants that are difficult to detect.
Please avoid cryopreservation of the specimen. Please avoid duplicate requests with other items. This testing method can be affected by contamination, so please handle the specimen carefully during collection.

Subject to ethical guidelines (See below)

-About genetic test(genetic test related to designated intractable diseases)〔NGS〕
・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.
・This test reports variant information in the representative disease-causing genes of the requested disease and provides annotation information from ClinVar as reference. In addition, FASTQ files will be provided.
・For exon regions which codes proteins of the target genes, 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.
・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.
・Annotation information from the ClinVar database is based on the data available at the time the test is performed, and the database version will be indicated in the report.

Collect blood in the container shown below, mix thoroughly, and store in the refrigerator.
Please submit the specimen on the same day it is collected.

supplementary information

2023/09/08→梅津

2017/09/21

2023/09/08

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2020/11/26

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2025/10/07→大原

2025/05/20

2025/10/07

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2025/05/20