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TruSight, Understand Your Genome, UYG, VeraCode, verifi, VeriSeq, the pumpkin orange color, and the streaming bases design are trademarks of Illumina, Inc. and/or its affiliate(s) in the U.S. and/or
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2-Side 95% CIa (94.0%,99.8%) (69.9%,97.2%) (67.6%,100.0%)
Specificity, % (n/N)>99.9%
(2965/2966)
99.9%
(3034/3037)
99.9%
(3045/3049)
2-Side 95% CIa (99.8%,100.0%) (99.7%,100.0%) (99.7%,99.9%)
Data on file. Illumina, Inc. February 2017.
For In Vitro Diagnostic Use. Not available in all countries or regions
15
Percent Concordance of VeriSeq NIPT Solution Results
For Fetal Sex Classification with
Clinical Reference Standard Outcome
a Percent concordance is calculated as the number of samples in which the VeriSeq™ NIPT Solution fetal sex classification is consistent with the clinical
reference standard classification, divided by the total number of samples with the same clinical reference standard classification and valid VeriSeq™ NIPT
Solution results. Outcomes are based on 3,082 samples, as 4 did not have a clinical reference.b Represents monosomy X. c 1 sample was 49, XXXXY, classified as “Sex chromosome not reportable”.
Newborn Physical Exam
Outcome
[No Cytogenetic Results]
Cytogenetic Results
Female Male XX XY MXb XXX XXY XYY Otherc
Percent Concordanta99.9%
(1371/1373)
99.9%
(1420/1422)
97.4%
(147/151)
100.0%
(118/118)
100.0%
(6/6)
80.0%
(4/5)
100.0%
(5/5)
100.0%
(1/1)
Not
Applicable
Data on file. Illumina, Inc. February 2017.
For In Vitro Diagnostic Use. Not available in all countries or regions.
16
VeriSeq NIPT Solution Clinical Accuracy Study Implications
Data on file. Illumina, Inc. February 2017.
The observed sensitivities and specificities for VeriSeq NIPT in determining fetal
aneuploidy for chromosomes 21, 18, 13, X and Y are vastly superior to
traditional serum screening.
The VeriSeq™ NIPT Solution utilizes iFACT, a quality metric which enables
detection of fetal aneuploidy at fetal fraction estimations of 4% or less.
The VeriSeq™ NIPT Solution demonstrated fewer false positive results which
may result in fewer invasive diagnostic tests compared to serum screening. This
may lead to fewer procedure-related pregnancy losses.
For In Vitro Diagnostic Use. Not available in all countries or regions
17
Thank You!Questions?
• Easy to implement, Automated, PCR-free workflow
• Integrated, CE-IVD marked sample preparation and analysis
• Hands-on training and support from Illumina
• Fastest sample accession to report time (~26 hours total)
• 2 hours “hands on time” per batch of 48 or 96 samples
• High-throughput
• Industry leading low failure rate
• Large (>3k sample) clinical accuracy study
• Reduce invasive procedures and patient anxiety
Streamlined
Fast
Confidence
Automated NIPT for detection of aneuploidy of chromosomes 21, 18, 13, X & Y
For In Vitro Diagnostic Use. Not available in all countries or regions