Different NIPTs for different patient needs
No other genetic testing laboratory currently offers as much expertise, experience, and choice in NIPT—noninvasive prenatal testing, also called NIPS or cfDNA (cell-free DNA) screening.
With the 2016 acquisition of Sequenom, creator of the first commercially available NIPT, Integrated Genetics now offers three NIPTs—with more than 1 million tests run in total.
Each NIPT offers different capabilities and/or panels to suit the specific needs of your patients and your practice.
MaterniT® GENOME
The only clinically validated genome-wide NIPT, screens all 23 chromosome pairs, reporting aneuploidies, large deletions and duplications greater than 7 Mb in addition to select microdeletions; after more than 35,000 tests resulted, more than 29% of all positive findings were only detectable using genome-wide cfDNA, the methodology used by MaterniT GENOME, as compared to traditional NIPT.1
MaterniT® 21 PLUS
The pioneering NIPT with more than 750,000 tests run; screens the core trisomies 21, 18, and 13, and (optionally) fetal sex, clinically relevant microdeletions, sex chromosome aneuploidies, and trisomies 16 and 22.
informaSeq®
Integrated Genetics’ legacy NIPT; an ideal fit for physicians who want to only test for trisomies 21, 18, and 13, and optional testing for fetal sex, monosomy X, triple X, Klinefelter syndrome, and XXY, or Jacobs syndrome.
| MaterniT® GENOME | MaterniT® 21 PLUS | informaSeq® | ||
| Detects trisomy 21 (Down syndrome) | ||||
| Detects trisomy 18 (Edwards syndrome) | ||||
| Detects trisomy 13 (Patau syndrome) | ||||
| Detects sex chromosome abnormalities* | ||||
| Reports fetal fraction | ||||
| Reports fetal sex* | ||||
| Multiple gestations† | ||||
| Detects additional trisomies 22, 16* | ||||
| Detects select microdeletions, such as 22q11.2 (DiGeorge syndrome)** | ||||
| Performed as early as 9 weeks | ||||
| ~5 calendar day turnaround time | ||||
| Genome-wide analysis of all chromosomes | ||||
| Reports on any trisomy or monosomy | ||||
| Detects subchromosomal abnormalities ≥ 7 Mb | ||||
MaterniT 21 PLUS, MaterniT GENOME, and informaSeq are laboratory-developed test developed and performed exclusively by Integrated Genetics.
* Optional reporting † informaSeq is validated for singleton and twin pregnancies ** Optional reporting for MaterniT 21 PLUS
References
- Ehrich M, Tynan J, Mazloom A, Almasri E, McCullough R, Boomer T, et al. Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases. Genet Med. 2017 Jun 15. 1-6.