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- Mimix™ Trisomy 18 Male-Matched Reference Standard
Mimix™ Trisomy 18 Male-Matched Reference Standard
Non-Invasive Prenatal Screening (NIPS) or Non-Invasive Prenatal Testing (NIPT) is a screening technique for accurately detecting aneuploidies and other chromosomal abnormalities from maternal blood. This test reduces the need for sampling using invasive techniques like chorionic-villus sampling (CVS) or amniocentesis which may be risky to the fetus. To ensure reproducible and accurate test results using NIPT, there is a need for stable, reusable and patient-like reference material to validate, monitor and troubleshoot assays designed to identify fetal aneuploidies by analyzing cfDNA from maternal blood samples.
These reference standards are developed in collaboration with prenatal clinical labs. Maternal and corresponding aneuploid fetal cells were collected and immortalized to generate matched maternal-fetal reference material manufactured from cells derived from healthy mother carrying a male fetus with Trisomy 18 (Edwards syndrome).
Features and benefits:
- Reproducible and sustainable
- Matched maternal-fetal cfDNA based reference material
- Cell line-derived for close representation of patient samples
- Can be used for end-to-end validation of workflow
- Extensively validated using ddPCR and Vanadis® NIPT platforms
- Manufactured under ISO 9001:2015
Technical Data
Format: cfDNA
Fetal Fraction: 10%
Buffer: Synthetic Matrix II
Product Information
Fragment size: ~170bp
Unit size: 40ng per 1mL
Expected DNA yield: ≥24ng DNA of product using the QIAamp® Circulating Nucleic Acid Kit with 2mL extraction input
Verified Copy Numbers
Chromosome | Variant | Expected copy number/Fractional abundance (%) |
---|---|---|
Maternal - gDNA |
||
Chr 13 | N/A |
2 |
Chr 18 | 2 | |
Chr 21 | 2 | |
Chr X | 2 | |
Chr Y | 0 | |
Fetal - gDNA | ||
Chr 13 | Trisomy 18 - Male | 2 |
Chr 18 | 3 | |
Chr 21 | 2 | |
Chr X | 1 | |
Chr Y | 1 | |
10% Fetal Fraction (pre-fragmentation) | ||
Chr Y | Trisomy 18 - Male | 5.00** |
10% Fetal Fraction (post-fragmentation, extracted) | ||
Chr Y | Trisomy 18 - Male | 5.00** |
** Fetal Fraction = Fractional abundance (%) of SNP in Chr Y measured by ddPCR x 2
General Information
Shipping conditions: Ambient
Storage: 4°C
Expiration: 13 months from Date of Manufacture. See individual batch CoAs for exact information
Intended use: For assay developers, molecular diagnostic labs (Research use only)
Quality Control
Fragmentation size: HS D1000 DNA ScreenTape assay
Allelic Frequency: Droplet Digital™ PCR
Quantification: Qubit® HS dsDNA Assay
Vanadis Results
The Vanadis® NIPT system is the only NIPT screening platform to enable targeted cfDNA analysis allowing the quantification of chromosomes 21, 18, 13 without PCR, sequencing, microarrays or microfluidics. Instead, 3500 cfDNA fragments per chromosome are captured by highly specific chromosome 21, 18, and 13 probes. After perfect hybridization and ligation of the fragments in both ends of the specific probes, DNA circles including the chromosomal fragments are created. The chromosome fragments in DNA circles are amplified by rolling circle PCR and specific fluorophores are incorporated for each chromosome being analyzed. A proprietary nanofilter plate then captures the labeled DNA molecules for imaging to determine a density score.
Table showing representative data generated on the Vanadis NIPT platform using Revvity’s NIPT reference product line. Normalized ratios are calculated using the Vanadis NIPT platform imaging data and density scores for chromosomes 13, 18 and 21, which in turn are used to determine Z-scores for each.
Normalized ratio Representative normalized ratio plots using data generated on the Vanadis NIPT platform and Revvity’s NIPT reference product line. Both the chromosome being analyzed (13, 18 or 21) and euploid data points should lie on or close the diagonal, with the euploid being close to the center of the plot and the chromosome being analyzed in the upper right quadrant if positive for the trisomy.
Z-score Representative z-score plots using data generated on the Vanadis NIPT platform and Revvity’s NIPT reference product line. All samples that result in a positive outcome for trisomy 13, 18 or 21 show z-scores above a threshold of 3.15.
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Reference Standards
Related Products
As the awareness of the potential of Non-Invasive Prenatal Testing (NIPT) grows in the clinical context worldwide, there is a need to systematically ensure that the results are consistent and precise. Revvity’s new array of reference standards will enable to assess the accuracy of NIPT tests.
As the awareness of the potential of Non-Invasive Prenatal Testing (NIPT) grows in the clinical context worldwide, there is a need to systematically ensure that the results are consistent and precise. Revvity’s new array of reference standards will enable to assess the accuracy of NIPT tests.
As the awareness of the potential of Non-Invasive Prenatal Testing (NIPT) grows in the clinical context worldwide, there is a need to systematically ensure that the results are consistent and precise. Revvity’s new array of reference standards will enable to assess the accuracy of NIPT tests.