Description
The 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.
This is a highly multiplexed and comprehensive reference material containing 54 clinically important SNVs, deletions and duplications occurring in inherited hemoglobinopathies, deafness, heart disease, immunodeficiency, neuromuscular and treatable metabolic disorders.
FEATURES AND BENEFITS
- Develop and validate carrier screening-based NGS assays with confidence using a highly multiplexed reference material containing important monogenic disorder biomarkers.
- Contains 54 clinically important variants from 48 genes associated with the most common monogenic disorders: Cystic Fibrosis, Spinal Muscular Atrophy (SMA), α- and β-thalassemia, congenital deafness, fragile X syndrome, sickle cell disease, Tay–Sachs disease, Gaucher disease, Phenylketonuria, Cardiomyopathy, Smith–Lemli–Opitz syndrome and many more.
- Variants are present within a single well-characterized genomic background (GM24385) at clinically relevant allele frequencies, precisely quantitated by digital PCR and orthogonally verified by NGS.
- Manufacturing of large batches with long shelf-life allows for repeated use of the same lot for validation, or assay performance assessment over time.
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Product Specifications |
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# of genes |
48 genes |
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# of mutations |
54 variants (not including those present in the GM24385 background) |
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Format |
1 mM Tris, 0.1 mM EDTA, pH 8.0 |
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Size |
1 x 20 µL |
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Nominal Concentration |
30 ng/µL (Please refer to the technical report for the batch-specific concentration) |