A test your patients can trust. A company you know and trust.
Provide your patients with a precise, non-invasive test that can assess
risk for multiple fetal chromosomal aneuploidies from a single blood
draw. Simple and safe, informaSeq can be administered as early as
10 weeks, giving you and your patients the information you both need.
Intended Use
informaSeq is intended for patients with
singleton, twin, and donor pregnancies as
early as 10 weeks gestation who meet any
of the following criteria:
 Advanced
maternal age (≥35 years
for singleton and twin pregnancies)
 Positive
serum screen
 Abnormal
ultrasound
 Increased
risk of T21, T18, T13
(or sex chromosome aneuploidy
in singleton pregnancy)
]
ACOG and Society of
Maternal Fetal Medicine
(SMFM) Committee recognized
the tremendous potential
of cell-free DNA (cfDNA)
testing and concluded that
cfDNA testing can be offered
to informed patients at
increased risk of aneuploidy.1
Please note: This test does not assess risk for
mosaicism, partial trisomies, or translocations.
The basic informaSeq test
screens for:
 T21
(Down syndrome)
 T18
(Edwards syndrome)  T13
(Patau syndrome)
Optional testing detects:
 Monosomy
 X XX
X (MX; Turner syndrome)
(Triple X)
 X XY
(Klinefelter syndrome)
 X YY
(Jacobs syndrome)
 Fetal
sex (XX or XY) – aids in stratifying
the risk for X-linked disorders such as
hemophilia
Specimen Requirements
Whole Blood
 Use
only the black and tan capped blood collection tubes
from the informaSeq kit
 One
Streck tube, minimum 7 mL
 Store
samples at room temperature and transport at ambient
temperature in the informaSeq kit
Turnaround Time
 5 -7
business days
Reliable results support informed decision making
Predictive Values3,4
Test performance2
Sensitivity
Specificity
21
>99.9%
99.8%
18
97.4%
99.6%
13
87.5%
>99.9%
MX
95.0%
99.0%
XX
97.6%
99.2%
XY
99.1%
98.9%
XXX
XXY
XYY
These are more rare aneuploidies
with limited data, precluding
performance calculations.
Sex chromosome mosaicism cannot be
distinguished by this method (the occurrence
of which is <0.3%).
Positive
Predictive Value
Negative
Predictive Value
21
0.994
0.999
18
0.910
0.999
13
0.843
0.999
Test Results

DETECTED


ANEUPLOIDY
SUSPECTED
NOT DETECTED





With any screening test, false positives and false
negatives can occur. However, the informaSeq test
provides context by reporting a “highest risk” result
as “aneuploidy detected” and a lower risk, more
borderline result as “aneuploidy suspected”. You
and your patients may use these distinctions to
help determine the best next steps.
Test #
CPT Codes
informaSeq Prenatal Test
550746
81479
informaSeq SM
Provides only risk assessment for the most
common autosomal trisomies.
550757
81479
informaSeq SM With Y analysis
Provides risk assessment for the most common
autosomal trisomies and fetal gender, but not
sex chromosome aneuploidies.
550716
81479
informaSeq With XY analysis
Provides risk assessment for the most common
autosomal trisomies, sex chromosome
aneuploidies, and fetal gender. This test is
only available for singleton pregnancies.
SM
Test Description
informaSeq, an advanced and accurate prenatal test
 Accurate
prenatal testing directed by board-certified molecular
geneticists as early as 10 weeks’ gestational age
 Testing performed via deep sequencing, which increases detection,
even in samples with a lower fraction of fetal DNA fragments
 Dual Threshold resulting stratifies risk prediction
 Quick resulting – 5-7 business days
REFERENCES
1.Noninvasive prenatal testing for fetal aneuploidy. Committee
Opinion No. 545. American College of Obstetricians and
Gynecologists. Obstet Gynecol 2012; 120:1532-4.
2.Verinata Health, Inc. (2012) analytical validation of the verifi®
Prenatal Test: Enhanced Test Performance For Detecting
Trisomies 21, 18, 13 and the Option for Classification of Sex
Chromosome Status. Redwood City, CA.
3.Futch, T, Spinosa J, Bhatt, S, de Feo E, Rava RP, Sehnert AJ.
Initial clinical laboratory experience in noninvasive prenatal
testing for fetal aneuploidy from maternal plasma DNA
samples. Prenat Diagn 2013:33-569-574.
4.Based on internal correlation data.
Integrated Genetics Client Services 800-848-4436
informaSeq is a service mark of Laboratory Corporation of America® Holdings.
Powered by Illumina® is a trademark of Illumina, Inc. in the U.S. and/or other countries
©2014 Laboratory Corporation of America® Holdings. All rights reserved.
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SM
informaSeq SM Prenatal Test is
Powered by Illumina ® sequencing technology.
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