Seraseq® Carrier Screening DNA Mix
€806.00
Delivery time: 1 to 2 weeks
Product number:
0730-0569
Product information "Seraseq® Carrier Screening DNA Mix"
Seraseq® Carrier Screening DNA Mix is a reference material intended for use in the development, validation, and evaluation of routine performance of Next Generation Sequencing (NGS) carrier screening assays (and other molecular assays) that identify inherited (germline) variants in genes associated with monogenic diseases. Seraseq Carrier Screening DNA Mix is a mixture of synthetic DNA constructs and genomic DNA extracted from the human cell line GM24385. It contains 54 clinically important SNVs, deletions and duplications occurring in inherited hemoglobinopathies, deafness, heart disease, immunodeficiency, neuromuscular and treatable metabolic disorders. The product is formulated to simulate a heterozygous state for each mutation at a 50% variant allele frequency (VAF) confirmed by droplet digital PCR and measured by NGS.
| Product type: | Control & reference materials |
|---|---|
| Regulatory status: | RUO |
| Content: | 30 ng/µl |
| Quantity: | 1 x 20 μl |
| Storage temperature: | -20 °C |
| Shipping method: | Dry ice |
| Country of distribution: | Germany, Austria |