توالی یابی کلیه اگزونونهای ژنوم انسانی

توالی یابی کلیه اگزونونهای ژنوم انسانی

( Whole Exome Sequencing )

کد آزمایش	عنوان	تشخیص بیماری	نام ژن(ها)	نمونه مورد نیاز	روش آنالیز	مدت آنالیز
WES1	Human Whole Exome Sequencing, ۱۰۰X Illumina Plateform, V6 Agilent SureSelect Capturing	Human Whole Exome Sequencing, ۱۰۰X Illumina Plateform, V6 Agilent SureSelect Capturing	Sequencing of all exons in > 23 000 genes, > ۴۳۰ ۰۰۰ targeted exon fragments, Raw Data Only (FASTQ)	خون وریدی حاوی EDTA	NGS	۲ماه
WES1‐A	Human Whole Exome Sequencing, ۱۰۰X Illumina Plateform, V6 Agilent SureSelect Capturing	Human Whole Exome Sequencing, ۱۰۰X Illumina Plateform, V6 Agilent SureSelect Capturing	Sequencing of all exons in > 23 000 genes, > ۴۳۰ ۰۰۰ targeted exon fragments, FASTQ + BAM + VCF + Annotation	خون وریدی حاوی EDTA	NGS	۲ماه
WES1‐AR	Human Whole Exome Sequencing, ۱۰۰X Illumina Plateform, V6 Agilent SureSelect Capturing	Human Whole Exome Sequencing, ۱۰۰X Illumina Plateform, V6 Agilent SureSelect Capturing	Sequencing of all exons in > 23 000 genes, > ۴۳۰ ۰۰۰ targeted exon fragments, FASTQ + BAM + VCF + Annotation + Analysis Report	خون وریدی حاوی EDTA	NGS	۲ماه
˶˶˶ ‐Trio	All above options are available as trio	All above options are available as trio	Please contact us for details	خون وریدی حاوی EDTA	NGS	۲ماه
WESU1	Human Whole Exome Sequencing + UTR, 100X Illumina Plateform, V6 + UTR Agilent SureSelect Capturing	Human Whole Exome Sequencing + UTR, 100X Illumina Plateform, V6 + UTR Agilent SureSelect Capturing	Sequencing of all exons in > 23 000 genes, > ۴۳۰ ۰۰۰ targeted exon fragments + UTR, Raw Data Only (FASTQ)	خون وریدی حاوی EDTA	NGS	۲ماه
WESU1‐A	Human Whole Exome Sequencing + UTR, 100X Illumina Plateform, V6 + UTR Agilent SureSelect Capturing	Human Whole Exome Sequencing + UTR, 100X Illumina Plateform, V6 + UTR Agilent SureSelect Capturing	Sequencing of all exons in > 23 000 genes, > ۴۳۰ ۰۰۰ targeted exon fragments + UTR, FASTQ + BAM + VCF + Annotation	خون وریدی حاوی EDTA	NGS	۲ماه
WESU1‐AR	Human Whole Exome Sequencing + UTR, 100X Illumina Plateform, V6 + UTR Agilent SureSelect Capturing	Human Whole Exome Sequencing + UTR, 100X Illumina Plateform, V6 + UTR Agilent SureSelect Capturing	Sequencing of all exons + UTR in > 23 000 genes, FASTQ + BAM + VCF + Annotation+ Analysis Report	خون وریدی حاوی EDTA	NGS	۲ماه
˶˶˶ ‐Trio	All above options are available as trio.	All above options are available as trio	Please contact us for details	خون وریدی حاوی EDTA	NGS	۲ماه
******	More options are available for WES: Including above options with higher depth, or your own customised WES	More options are available for WES: Including above options with higher depth, or your own customised WES	Please contact us for details.	خون وریدی حاوی EDTA	NGS	۲ماه
DX0458	Clinical Whole Exome sequenceing by BGI‐DX.	Clinical Whole Exome sequenceing by BGI‐DX	Sequencing of more than 20 000 human genes with clinical analysis of more than ۲۷۰۰ genes (OMIM panel), related to more than 4100 human genetic disorders	خون وریدی حاوی EDTA	NGS	۲ماه
DX1335	Trio (Patient + Parents) Clinical Whole Exome sequenceing by BGI‐DX	Trio (Patient + Parents) Clinical Whole Exome sequenceing by BGI‐DX	Sequencing of more than 20 000 human genes with clinical analysis of more than ۲۷۰۰ genes (OMIM panel), related to more than 4100 human genetic disorders.	خون وریدی حاوی EDTA	NGS	۲ماه
WGS1	Human Whole Genome Sequencing, ۳۰X ‐ Illumina Plateform	Human Whole Genome Sequencing, ۳۰X ‐ Illumina Plateform	Raw Data Only (FASTQ)
WGS1‐A	Human Whole Genome Sequencing	Human Whole Genome Sequencing,	۳۰x ‐ Illumina Plateform, Raw Data (FASTQ) + BAM + VCF + Annotation
WGS1‐AR	Human Whole Genome Sequencing	Human Whole Genome Sequencing	۳۰x ‐ Illumina Plateform, Raw Data (FASTQ) + BAM + VCF + Annotation + Analysis
WGS‐T1	Trio (Patient + Parents) Human Whole Genome Sequencing	Trio (Patient + Parents) Human Whole Genome Sequencing	Please contact us for details