Genotype
40 on-target reads · 3 µg DNA
Allele sizing, sequence and methylation.
Discuss this serviceProfile
200 on-target reads · 5 µg DNA
Expanded-allele distribution, interruptions and phased methylation.
Discuss this serviceDeep
500 on-target reads · 15 µg DNA
Profile measurements plus a progenitor allele estimate and instability index.
Discuss this serviceStarting prices shown for DMPK. Other targets are priced by design; compare the full catalog below.
Sequencing options
- Whole genome: Approximately 30× coverage across the genome, with small-variant, structural-variant and methylation analysis, plus a report on 46 disease-associated repeat loci. Uses one flow cell per sample and provides approximately 30 reads per locus.
- Adaptive whole genome: Approximately 30× coverage of selected repetitive regions, including the 46 disease-associated repeat loci, and 2× coverage elsewhere. Reads are aligned to the T2T reference genome, with approximately 30 reads per repeat locus.
- Whole genome plus targeted, $2,995 per sample: Combines the full 30× long-read genome with 3X-TGT Profile enrichment, providing approximately 230 reads at the selected target alongside genome-wide sequence and methylation data.
Cost per target read is the per-sample price divided by the number of reads covering the target.
| Option, one target | Price per sample | Reads at the target | Cost per target read |
|---|---|---|---|
| Whole genome | $2,495 | About 30 | $83.17 |
| Whole genome, adaptive | $995 | About 30 | $33.17 |
| Whole genome plus 3X-TGT Profile (DMPK) | $2,995 | About 230 | $13.02 |
| 3X-TGT Profile (DMPK) | $795 | 200 | $3.98 |
Read levels for DMPK and TCF4
3X-TGT cuts the DNA on both sides of the target so that the fragment carrying it falls in a size band that few other genomic fragments share, keeps that band, and reads each fragment end to end. A read level is a number of on-target reads per sample, and every level reports the sequence and the methylation of each read. The method is described on the Technology page.
| Level | Deliverable | Target reads per sample | Input DNA |
|---|---|---|---|
| Genotype | Detection and size class with both allele sizes, sequence and methylation | 40 on-target reads | 3 µg |
| Profile | Median and spread of the expanded allele, its interruptions and the methylation phased to each allele | 200 on-target reads, at least 30 from the expanded allele | 5 µg |
| Deep | The Profile plus a progenitor allele estimate, the full somatic distribution and an instability index | 500 on-target reads | 15 µg |
| Level | DMPK (DM1) | TCF4 (FECD) |
|---|---|---|
| Genotype | $395 · $9.88 per target read | $495 · $12.38 per target read |
| Profile | $795 · $3.98 per target read | $995 · $4.98 per target read |
| Deep (500 reads) | $1,495 | Quoted |
Volume discounts apply per order, across services: 10 percent for 10 to 19 samples, 15 percent for 20 to 49 samples and 20 percent for 50 or more; extraction is not discounted, and rush is charged on list.
Prices by locus
The 3X design engine has computed an enrichment design for each of the 46 disease repeat loci in the standard catalog. Loci other than DMPK and TCF4 are checked at the bench on the first order, with no setup charge and no minimum order; loci marked Quoted are priced per order.
| Gene | Condition | Status | Genotype | Profile |
|---|---|---|---|---|
| DMPK | Myotonic dystrophy type 1 | In production | $395 | $795 |
| TCF4 | Fuchs endothelial corneal dystrophy | In production | $495 | $995 |
| AFF2 | Fragile XE syndrome | Bench check on first order | $595 | $1,195 |
| AR | Spinal and bulbar muscular atrophy | Bench check on first order | $495 | $995 |
| ARX | Infantile epileptic encephalopathy (ARX) | Bench check on first order | $395 | $795 |
| ATN1 | Dentatorubral-pallidoluysian atrophy | Bench check on first order | $395 | $795 |
| ATXN1 | Spinocerebellar ataxia type 1 | Bench check on first order | $395 | $795 |
| ATXN10 | Spinocerebellar ataxia type 10 | Bench check on first order | $495 | $995 |
| ATXN2 | Spinocerebellar ataxia type 2 | Bench check on first order | $495 | $995 |
| ATXN3 | Spinocerebellar ataxia type 3 | Bench check on first order | $495 | $995 |
| ATXN7 | Spinocerebellar ataxia type 7 | Bench check on first order | $395 | $795 |
| ATXN8OS | Spinocerebellar ataxia type 8 | Bench check on first order | $495 | $995 |
| BEAN1 | Spinocerebellar ataxia type 31 | Bench check on first order | $495 | $995 |
| C9orf72 | ALS and frontotemporal dementia | Bench check on first order | $595 | $1,195 |
| CACNA1A | Spinocerebellar ataxia type 6 | Bench check on first order | $395 | $795 |
| CNBP | Myotonic dystrophy type 2 | Bench check on first order | Quoted | Quoted |
| CSTB | Unverricht-Lundborg disease | Bench check on first order | $395 | $795 |
| EIF4A3 | Richieri-Costa-Pereira syndrome | Bench check on first order | $495 | $995 |
| FGF14 | Spinocerebellar ataxia type 27B | Bench check on first order | $395 | $795 |
| FMR1 | Fragile X syndrome and FXTAS | Bench check on first order | $495 | $995 |
| FOXL2 | Blepharophimosis syndrome (BPES) | Bench check on first order | $395 | $795 |
| FXN | Friedreich ataxia | Bench check on first order | $495 | $995 |
| GIPC1 | Oculopharyngodistal myopathy | Bench check on first order | $395 | $795 |
| GLS | Glutaminase deficiency (GLS) | Bench check on first order | $595 | $1,195 |
| HOXA13 | Hand-foot-genital syndrome | Bench check on first order | $595 | $1,195 |
| HOXD13 | Synpolydactyly | Bench check on first order | $595 | $1,195 |
| HTT | Huntington disease | Bench check on first order | Quoted | Quoted |
| JPH3 | Huntington disease-like 2 | Bench check on first order | $495 | $995 |
| LOC642361 | Oculopharyngodistal myopathy | Bench check on first order | $395 | $795 |
| LRP12 | Oculopharyngodistal myopathy | Bench check on first order | $395 | $795 |
| MARCHF6 | Familial adult myoclonic epilepsy 3 | Bench check on first order | $595 | $1,195 |
| NOP56 | Spinocerebellar ataxia type 36 | Bench check on first order | Quoted | Quoted |
| NOTCH2NLC | Neuronal intranuclear inclusion disease | Bench check on first order | $495 | $995 |
| PABPN1 | Oculopharyngeal muscular dystrophy | Bench check on first order | $595 | $1,195 |
| PHOX2B | Congenital central hypoventilation syndrome | Bench check on first order | $495 | $995 |
| PPP2R2B | Spinocerebellar ataxia type 12 | Bench check on first order | Quoted | Quoted |
| RAPGEF2 | Familial adult myoclonic epilepsy 7 | Bench check on first order | $495 | $995 |
| RFC1 | CANVAS | Bench check on first order | $595 | $1,195 |
| RUNX2 | Cleidocranial dysplasia | Bench check on first order | $595 | $1,195 |
| SAMD12 | Familial adult myoclonic epilepsy 1 | Bench check on first order | $495 | $995 |
| SOX3 | X-linked intellectual disability (SOX3) | Bench check on first order | $595 | $1,195 |
| STARD7 | Familial adult myoclonic epilepsy 2 | Bench check on first order | $495 | $995 |
| TBP | Spinocerebellar ataxia type 17 | Bench check on first order | $495 | $995 |
| TNRC6A | Familial adult myoclonic epilepsy 6 | Bench check on first order | Quoted | Quoted |
| YEATS2 | Familial adult myoclonic epilepsy 4 | Bench check on first order | $495 | $995 |
| ZIC2 | Holoprosencephaly | Bench check on first order | $495 | $995 |
No matching loci. Try another gene or condition, or ask about a custom target.
PCR sizing for limited DNA
For samples with limited DNA, PCR-based sizing uses 20 to 200 ng. Options include:
- TP-PCR and STR screening: $350.
- Long-range PCR sequencing: $250 for one locus, plus $150 per additional locus, or $795 for the ten-locus panel.
- Small-pool PCR with sequencing: $1,495.
PCR-based methods do not preserve native methylation. See PCR sizing for methods, panel loci and turnaround times, and Sample requirements for DNA input and shipping instructions.
Beyond repeat loci
The 3X-TGT design engine also evaluates human genomic regions containing structural variants, genes and regulatory sequences. Submit GRCh38 coordinates for a window of 3,000 to 6,000 bases. Within one business day, we assess feasibility and provide the proposed enzyme cocktail, predicted enrichment and pricing for Genotype and Profile coverage levels. The enrichment design calculator gives a predicted design and price for any region of the human genome.