dGH SCREEN™
Cover Every Available Sequence
dGH SCREEN utilizes 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).
3/6 – 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).
dGH in-Site™
Examine Patient Samples One Cell at a Time
dGH in-Site gives researchers the ability to directly visualize and characterize rearrangements at targeted loci in genetic disease patient samples. Using synthetic oligo probes and repeat-free bioinformatic design, dGH in-Site is capable of tracking translocations, inversions, copy number variants, viral integrations and other complex rearrangements with an approximate 2kb resolution.
In-site allows researchers to examine patient samples one cell at a time without having to worry about PCR biases or misrepresentative sequencing averages from heterogeneous cell populations. Instead, as an orthogonal and complementary technique, in-Site allows you to gather the most comprehensive data available in order to help provide as many answers as possible for patients of rare or undiagnosed genetic diseases.
Pinpoint FISH™
Ultra High-Resolution FISH Assays
By modifying hybridization conditions and eliminating daughter strand degradation, KromaTiD probes can also be used for ultra high-resolution FISH assays. In cells that rarely divide or are non-dividing, Pinpoint FISH can be used to monitor structural rearrangements with the same resolution and applicability as dGH in-Site.
As opposed to BAC and many other FISH probes with limits of detection around 10kb, Pinpoint FISH is capable of tracking genomic loci as small as 2kb. Pinpoint FISH probes can be used in interphase or metaphase cells with a variety of color and design options available to help you get the data you need.