Test Indications
This screening test is intended for patients at 10 weeks or greater gestation who meet any of the following criteria:
- Advanced maternal age (≥35 years at delivery)
- Positive serum screen
- Abnormal ultrasound
- History suggestive of increased risk for T21, T18, T13, or sex chromosome aneuploidy
Expansion into Twin Pregnancies
Verifi™ has been expanded to include the option to test for Down syndrome, Trisomy 18 (Edwards Syndrome), and Trisomy 13 (Patau syndrome) in both monozygotic and dizygotic twin pregnancies. An option for the presence of the Y chromosome can be ordered for twins as well.
Sex Chromosome Detection
Verifi can also detect sex chromosome aneuploidies in singleton pregnancies – at no additional cost.
- Monosomy X (Turner syndrome)
- XXX (Triple X)
- XXY (Klinefelter syndrome)
- XYY (Jacobs syndrome)
- Fetal sex (XX or XY) – aids in risk stratification of X-linked disorders such as hemophilia
Verifi™ Plus – Responsibly Expanding the Accurate, Reliable, And Relevant Verifi™
Taking a deeper approach to the science of genomic sequencing, Verifi™ Plus, which tests for microdeletions, provides a clearer picture of chromosomal health—detecting even small abnormalities with a high degree of accuracy and reproducibility. Verifi™ Plus has been validated on actual clinical and analytical samples. Its optimized algorithm addresses the complexities of specific chromosomal regions to provide accurate answers about the loss of genetic material. The result is better overall performance, including a lower false positive rate and the lowest test failure rate in the industry.
What Is Included In Verifi™ Plus?
The Verifi™ Plus for singleton pregnancies tests for chromosomes 21, 18, 13 and additional tests options as shown below:
- Select microdeletions such as 1p36 deletion, 4p- (Wolf-Hirschhorn syndrome), 5p- (cri-du-chat syndrome), 15q11.2 (Prader-Willi syndrome/Angelman syndrome), and 22q11.2 deletion (DiGeorge syndrome).
- Sex chromosome aneuploidies (monosomy X, XXX, XXY, and XYY) are included if requested; fetal sex (XX or XY) will be reported if no sex chromosome aneuploidy is detected.
- Aneuploidy (trisomy) of all chromosomes, including sex chromosome aneuploidies.
Verifi™ Plus identifies six important genetic syndromes:
| Disorder | Incidence | Clinical Features (may include but not limited to) |
| 22q11.2 syndrome (DiGeorge syndrome, velocardiofacial syndrome) | 1 in 4,000 | Learning problems, congenital heart defects, palatal abnormalities |
| 1p36 deletion syndrome | 1 in 4,000 to 1 in 10,000 | Characteristic craniofacial features, intellectual disability, seizures, brain and heart defects |
| Angelman syndrome/Prader-Willi syndrome (15q11.2 deletion syndrome) | Angelman syndrome: 1 in 12,000
Prader-Willi syndrome: 1 in 10,000 to 1 in 25,000 |
Angelman syndrome: Intellectual disability, speech impairment, seizures
Prader-Willi syndrome: Hypotonia, morbid obesity, delayed motor and language skills, intellectual disability, hypogonadism |
| Cri du chat syndrome (5p-syndrome) |
1 in 20,000 to 1 in 50,000 | Intellectual disability, speech delay, cat-like-cry |
| Wolf-Hirschhorn syndrome (4p-syndrome) | 1 in 50,000 | Growth deficiency, hypotonia, craniofacial features, intellectual disability, heart and brain abnormalities |
Test Results
Turn around time: Results can be expected 5-7 business days from the time the sample is received at the laboratory.
Results from Verifi™ Plus are reported as “Positive: Aneuploidy Detected” or “Negative: No Aneuploidy Detected.” Results for chromosomes 21, 18, 13, X, and Y will continue to be reported individually. Results for the remaining chromosomes are reported collectively. A specific chromosomal aneuploidy will be reported in the event of a “Positive: Aneuploidy Detected” result. Results for a positive microdeletion syndrome will be reported as “Abnormality Detected.”
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Sample Report
View a complete Verifi™ Plus sample report.
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Specimen Requirements and Shipping Instructions
Please review the Verifi Sample Collection and Shipping Instruction Sheet for more details.
About Illumina
Illumina is a leading developer, manufacturer, and marketer of life science tools and integrated systems for large-scale analysis of genetic variation and function. These systems are enabling studies that were not even imaginable just a few years ago, and moving us closer to the realization of personalized medicine. With rapid advances in technology taking place, it is mission-critical to offer solutions that are not only innovative, but flexible, and scalable, with industry-leading support and service. They strive to meet this challenge by placing a high value on collaborative interactions, rapid delivery of solutions, and meeting the needs of our customers.
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