For researchers

Explore repeat expansions in greater detail.

Single-molecule repeat distributions, sequence and methylation from blood, saliva, tissue or cell-line DNA. Research services with reports and molecule-level data.

Research use only

Enrichment by fragment size

3X-TGT uses standard enzymes to cut DNA into fragments, then selects a size range that enriches the target repeat while removing more than 90 percent of the genome. Nanopore sequencing reads each retained molecule end to end, measuring repeat length, sequence and native methylation, with allele assignment where informative variants are present. No amplification is required. How 3X-TGT works.

DMPK (myotonic dystrophy type 1) and TCF4 (Fuchs endothelial corneal dystrophy) are available now. Additional repeat loci and repetitive regions are developed individually using genome-wide enrichment modeling. Send us your target locus and sample type to learn what an initial run can deliver.

Read levels

LevelDeliverableTarget reads per sampleInput DNA
GenotypeDetection and size class with both allele sizes, sequence and methylation40 on-target reads3 µg
ProfileMedian and spread of the expanded allele, its interruptions and the methylation phased to each allele200 on-target reads, at least 30 from the expanded allele5 µg
DeepThe Profile plus a progenitor allele estimate, the full somatic distribution and an instability index500 on-target reads15 µg

Services and prices

ServicePriceIncluded
3X-TGT Genotype$395 per sample40 on-target reads: both alleles sized, the expanded allele detected and classed, sequence and methylation on every read
3X-TGT Profile$795 per sample200 on-target reads: the distribution of the expanded allele, its interruptions and the methylation phased to each allele
3X-TGT Deep$1,495 per sample500 on-target reads: the Profile plus a progenitor allele estimate and an instability index
Whole genome, long read$2,495 per sample30x genome on one flow cell: small and structural variants, methylation and a report on 46 disease repeat loci
Whole genome, adaptive$995 per sample30x coverage of the repetitive regions of the genome, aligned to T2T, including the 46 disease repeat loci; the rest of the genome at 2x
TP-PCR and STR screen$350 per sampleCapillary repeat-primed PCR and STR sizing of both alleles, from 100 ng
Long-range PCR sequencing$250 per sampleOne locus from 20 to 100 ng, amplicons read end to end; $150 for each further locus. PCR sizing
Long-range PCR panel, 10 loci$795 per sampleThe ten-locus repeat panel from 100 ng
Small-pool PCR by sequencing$1,495 per sampleProgenitor allele, instability index and single-molecule distribution from 200 ng
DNA extraction at 3X$50 blood or saliva; $110 tissue, cells or mouse tailMagnetic-bead extraction for blood and saliva; high-molecular-weight extraction for tissue, cultured cells and mouse tail

Research use only. Prices in US dollars. Read levels, locus prices and the whole-genome options are on the Pricing page.

Deliverables

DeliverableContents
Locus reportThe bioinformatics relevant to the locus: a data workbook (length, sequence, interruptions and methylation of every molecule) and the on-target alignments
Genotype callThe call for the sample; at the Profile and Deep levels, also the per-molecule distribution with its summary statistics; at the Deep level, the progenitor allele estimate
Raw signal dataOn request

Example deliverables from two DM1 samples: example report (PDF) and data workbook (XLSX, 5 MB).

Collaborations

For complex projects, 3X assigns an internal team to work with the research group. 3X also collaborates on grants and contracts, including SBIR and STTR subcontracts, and in other collaborative formats.

Contact Steven Oldenburg, PhD: [email protected] · Leominster, MA