dGH SCREEN™

Cover Every Available Sequence

Single-cell Rearrangement Event Evaluation and Numbering – dGH SCREEN™ assays utilize KromaTiD’s single stranded, synthetic probes to cover every available sequence in the genome for the ultimate unbiased assessment of potentially causative structural variants. By spanning entire chromosomes, dGH SCREEN™ enables researchers to directly visualize structural rearrangements anywhere in the genome, making it possible to discover previously unseen or unsuspected rearrangements without knowing where to look in the first place.

Through our work with the Undiagnosed Diseases Consortium and others within industry and academia, we have demonstrated the value of utilizing SCREEN™ as a discovery tool in patients with undiagnosed diseases. Because of KromaTiD’s proprietary cell preparation methods and probe design, dGH SCREEN™ has detected a previously unknown inversion in both an undiagnosed disease patient and one of their family members.

1/5 - Data from 6 undiagnosed disease patients and 5 of their family members were assessed with dGH paints through the Undiagnosed Disease Consortium. Here, a cell from one of the patients demonstrates a pericentric inversion on chromosome 2 (circled).
2/5 - A cell from another patient from the Undiagnosed Disease Consortium demonstrating a paracentric inversion on chromosome 2 (circled).
3/5 - De novo discovery of a previously unsuspected large inversion (circled) found in roughly 40% of cells on chromosome 2 in an undiagnosed disease patient.
4/5 - Follow up assay in which a probe ladder was designed for the antisense strand, and used in combination with chromatid 2 paint to narrow down the breakpoint region locations. This image demonstrates a normal cell without rearrangements.
5/5 - Antisense ladder and chromatid 2 paint combination assay demonstrating an inversion between the ladder and paint (circled).

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Products	List Price
Non-refundable set-up fee (when applicable)	Project Specific
Assay Execution, Imaging, and Scoring	$5000/sample
Culture Development	$600/sample
Cell Culture + Harvest per Sample	$600/sample

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dGH SCREEN™

Cover Every Available Sequence

1/5 - Data from 6 undiagnosed disease patients and 5 of their family members were assessed with dGH paints through the Undiagnosed Disease Consortium. Here, a cell from one of the patients demonstrates a pericentric inversion on chromosome 2 (circled).

2/5 - A cell from another patient from the Undiagnosed Disease Consortium demonstrating a paracentric inversion on chromosome 2 (circled).

3/5 - De novo discovery of a previously unsuspected large inversion (circled) found in roughly 40% of cells on chromosome 2 in an undiagnosed disease patient.

4/5 - Follow up assay in which a probe ladder was designed for the antisense strand, and used in combination with chromatid 2 paint to narrow down the breakpoint region locations. This image demonstrates a normal cell without rearrangements.

5/5 - Antisense ladder and chromatid 2 paint combination assay demonstrating an inversion between the ladder and paint (circled).

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