Methodologies | Connective Tissue Gene Tests

CTGT also offers Next Generation Sequencing (NGS) panels using the SureSelect and Illumina MiSeq platforms. NGS provides high throughput sequencing of many genes simultaneously and is useful for disorders associated with multiple genes.

CTGT utilizes advanced technology and innovative, custom-designed software to perform next generation sequencing tests.  Our next generation sequencing panels provide Sanger quality data with a rapid turn-around time at reduced cost. CTGT offers 100% coverage of targeted exons and exon boundaries, for the detection of insertions and deletions, and complete selectivity in the presence of pseudogenes.

All coding exons and exon boundaries of the genes on the panel are captured using SureSelect target enrichment. The products are sequenced on an Illumina MiSeq and proprietary, custom designed software is used to identify sequence variants. Exons that are not completely covered by at least 40 NGS reads are sequenced using Sanger sequencing.  Additionally, all potentially pathogenic sequence variants identified by NGS are confirmed by Sanger sequencing. Similar to Sanger sequencing, this method will detect point mutations, splice site mutations, and small insertions and deletions.

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