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)

Please note: This test does not assess risk for mosaicism, partial trisomies, or translocations.

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

]

The basic informaSeq test

T21 (Down syndrome) T18 (Edwards syndrome) T13 (Patau syndrome)

Optional testing detects: Monosomy X (MX; Turner syndrome) XXX (Triple X) XXY (Klinefelter syndrome) XYY (Jacobs syndrome) Fetal sex (XX or XY) – aids in stratifying

the risk for X-linked disorders such as hemophilia

screens for:

Specimen RequirementsWhole 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

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.

A test your patients can trust. A company you know and trust.

www.integratedgenetics.comwww.mytestingoptions.com

Positive Predictive Value

Negative Predictive Value

21 0.994 0.999

18 0.910 0.999

13 0.843 0.999

Predictive Values3,4

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.

DETECTED

ANEUPLOIDYSUSPECTED

NOT DETECTED

Test Results

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%

XXXXXYXYY

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%).

Test # CPT Codes informaSeq Prenatal Test Test Description

550746 81479 informaSeqSMProvides only risk assessment for the most common autosomal trisomies.

550757 81479 informaSeqSM With Y analysisProvides risk assessment for the most common autosomal trisomies and fetal gender, but not sex chromosome aneuploidies.

550716 81479 informaSeqSM 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.

informaSeqSM 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. rep-922-v1-0814

L13450-0814-1

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

REFERENCES1. 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.

informaSeqSM Prenatal Test is Powered by Illumina® sequencing technology.

Integrated Genetics Client Services 800-848-4436

Reliable results support informed decision making