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Clinical Performance (for Clinical Laboratories)

Test performance observed following validation metrics for singleton and twin pregnancies

IONA® Nx validation studya
 SensitivitySpecificity
Trisomy 21

>99.99%
(46/46)
95% CI: 92.3 - 100%

>99.99% 
(426/426)
95% CI: 99.1 – 100%
Trisomy 18

>99.99%
(20/20)
95% CI: 83.2 – 100%

>99.99%
(452/452)
95% CI: 99.2 – 100%
Trisomy 13

>99.99%
(10/10)
95% CI: 69.2 – 100%

>99.99%
(462/462)
95% CI: 99.2 – 100%

a The Validation performance has been demonstrated by evaluating 472 clinical samples from singleton and twin pregnancy and comparing to a reference result of an amniocentesis or chorionic villus sampling (CVS) sample or a birth outcome.

 

Condition

Sensitivity

Specificity

XO
(Turner Syndrome)

>99.99%
(15/15)
95% CI: 78.2 – 100%

>99.99%
(428/428)
95% CI: 99.1 – 100%

XXY
(Klinefelter syndrome)

>99.99%
(4/4)
95% CI: 39.8 – 100%

99.5%
(437/439)
95% CI: 98.4 – 99.9%

XYY
(XYY Syndrome)

N/A

>99.99%
(443/443)
95% CI: 99.2 – 100%

XXX
(Trisomy X)

>99.99%
(1/1)
95% CI: 2.5 – 100%

>99.99%
(442/442)
95% CI: 99.2 – 100%

Autosomal Aneuploidy 

>99.9%
(3/3)
95% CI: 29.2 – 100%

99.3%
(439/442)
95% CI: 98.0 – 99.9%

Monosomy

N/A

>99.9%
(442/442)
95% CI: 99.2 – 100%

The Validation performance has been demonstrated by evaluating 443 clinical samples from singleton and comparing to a reference result of an amniocentesis or chorionic villus sampling (CVS) sample or a birth outcome.

This has been demonstrated using the IONA® Nx cfDNA Library Preparation DX kit and the IONA® analysis software version 2.0.2. Data held on file by Yourgene Health Plc.

Click here for post-market surveillance data for the IONA® Nx workflow.