Inherited Disease

Seraseq® Inherited Cancer DNA Mix v1

Material Number 0730-0003
Size 1 x 200 µL
Inventory Status In Stock
Unit EA

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.

Seraseq Inherited Cancer DNA Mix v1

Doc type
Safety Data Sheet (Non-Requirement Letter)

Seraseq Inherited Cancer DNA Mix v1

Doc type
Product Report
Lot #

Seraseq Inherited Cancer Reference Material

Doc type
Product Sheet

Seraseq Inherited Cancer DNA Mix v1

Doc type
Technical Product Report
Lot #

Seraseq Inherited Cancer DNA Mix v1

Doc type
Product Report
Lot #

Seraseq Inherited Cancer DNA Mix v1 Technical Spreadsheet

Doc type
Technical Spreadsheet
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.

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