XOME™

Showing all 13 results

XOME EXPRESS
Genetic exome sequencing for fast identification of top 20 variants reports based on BGI’s automated variant analysis pipeline
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XOME EXPRESS (TRIO)
Screens up to 3 related individual on top of regular XOME Express
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XOME GENETIC TESTING FOR 21-OHD CONGENITAL ADRENAL HYPERPLASIA
Sanger sequencing testing for 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia with CYP21A2 gene
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XOME GENETIC TESTING FOR CNV VALIDATION
Add on service for Genetic Testing for Monogenic Disease with CNV Validation
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XOME GENETIC TESTING FOR MONOGENIC DISEASE (1-9 GENES)
Targeted sequencing of over 5,000 kinds of diseases in 10 human body systems in conjunction with clinical presentation and other marker of disease progression
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XOME GENETIC TESTING FOR MONOGENIC DISEASE (10-199 GENES)
Targeted sequencing of over 5,000 kinds of diseases in 10 human body systems in conjunction with clinical presentation and other marker of disease progression
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XOME GENETIC TESTING FOR MONOGENIC DISEASE (200+ GENES)
Targeted sequencing of over 5,000 kinds of diseases in 10 human body systems in conjunction with clinical presentation and other marker of disease progression
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XOME GENETIC TESTING FOR MUTATION VALIDATION
Add on service for Genetic Testing for Monogenic Disease with Mutation Validation
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XOME GENETIC TESTING FOR SPINAL MUSCULAR ATROPHY
Sanger sequencing testing of Spinal Muscular Atrophy with SMN1 gene
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XOME WHOLE EXOME SEQUENCING (CWES)
Whole exome sequencing of over 180,000 exons across 22,000 genes for more than 4,000 monogenic diseases
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XOME WHOLE EXOME SEQUENCING (CWES) (TRIO)
Screens up to 3 related individual on top of regular XOME cWES
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XOME WHOLE GENOME SEQUENCING (CWGS)
More comprehensive and higher efficiency genome sequencing that detects all the DNA in the individual’s genome
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XOME WHOLE GENOME SEQUENCING (CWGS) (TRIO)
Screens up to 3 related individual on top of regular XOME cWGS
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