Description
Targeted Next-Generation Sequencing (NGS) panels are increasingly being used to discover causative variants for inherited cancer, such as Hereditary Breast and Ovarian Cancer. As such panels continue to expand, there is a growing demand for multiplexed reference materials that cover a broad range of pathogenic variants to expedite test development and validation. The traditional practice of using reference materials from public biobanks or remnant patient samples with single pathogenic variants can be extremely tedious, inefficient, and expensive.
Seraseq Inherited Cancer DNA Mix v1 addresses the lack of multiplexed reference materials for targeted NGS assays with an expert-designed product1 and published methodology2 focused on seven genes associated with inherited cancer including BRCA1 and BRCA2.
This unique product combines over 20 variants3 in a well-characterized genomic background that can be used for assay development and analytical validation.
- Expedite assay development and validation with ready source of over 20 inherited cancer-specific variants
- Save $1000s in sequencing and validation costs with a highly multiplexed configuration
- Assess common, rare as well as technically challenging variants
- Well-characterized GM24385 human genomic DNA as background wild-type material
- Manufactured in GMP-compliant and ISO 13485-certified facilities
- Customizable to cover desired variants with the VariantFlex Custom Platform
- For research use only.
Not for use in diagnostic procedures.
1. Developed in collaboration with Invitae Corp (Steve Lincoln, Rebecca Truty, et al.)
2. Kudalkar EM, Almontarishi NA, Huang C, Anekella B, Bowser M, Hynes E, Garlick R, Funke BH. Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy. J Mol Diagn. 2016 Sep 15. pii: S1525-1578(16)30142-8. doi:10.1016/j.jmoldx.2016.07.005
3. See Specifications tab for full list of variants.
Specifications:
| Gene ID | Mutation Type | HGVS Nomenclature | Variant Length | Target Allele Frequency |
| BRCA2 | Deletion | NM_000059.3:c.8975_9100del | 126 | 50% |
| BRCA2 | Small Indel | NM_000059.3:c.1310_1313del | 4 | 50% |
| BRCA2 | Small Indel | NM_000059.3:c.1813dupA | 1 | 50% |
| BRCA2 | Large Indel | NM_000059.3:c.9342_9343insAluY | 343 | 50% |
| BRCA1 | Small Indel | NM_007294.3:c.5266dupC | 1 | 50% |
| BRCA1 | Small Indel | NM_007294.3:c.5177_5180del | 4 | 50% |
| BRCA1 | Small Indel | NM_007294.3:c.3756_3759del | 4 | 50% |
| BRCA1 | Large Indel | NM_007294.3:c.3481_3491del | 11 | 50% |
| BRCA1 | Substitution | NM_007294.3:c.3113A>G | 1 | 50% |
| BRCA1 | Large Indel | NM_007294.3:c.3084_3094del | 11 | 50% |
| BRCA1 | Small Indel | NM_007294.3:c.2834_2836delinsC | 3 | 50% |
| BRCA1 | Small Indel | NM_007294.3:c.68_69del | 2 | 50% |
| MSH2 | Substitution | NM_000251.2:c.942+3A>T | 1 | 50% |
| MSH2 | Large Indel | NM_000251.2:c.1662-12_1677del | 28 | 50% |
| MSH6 | Large Indel | NM_000179.2:c.2056_2060delinsCTTCTACCTCAAAAA | 15 | 50% |
| MSH6 | Small Indel | NM_000179.2:c.2308_2312delinsT | 6 | 50% |
| MSH6 | Small Indel | NM_000179.2:c.2641delinsAAAA | 5 | 50% |
| MSH6 | Small Indel | NM_000179.2:c.3163dupG | 1 | 50% |
| MLH1 | Large Indel | NM_000249.3:c.232_243delinsATGTAAGG | 12 | 50% |
| MLH1 | Small Indel | NM_000249.3:c.1852_1854del | 3 | 50% |
| PMS2 | Small Indel | NM_000535.5:c.2243_2246del | 4 | 50% |
| PMS2 | Small Indel | NM_000535.5:c.861_864del | 4 | 50% |
| CDKN2A | Large Indel | NM_000077.4:c.9_32dup24 | 24 | 50% |
Note: Above list does not include variants present in the GM24385 background. Certain assays may detect the presence of a PMS2 variant (NM_000535.5:c.2444C>G) which was used for internal development purposes only.