Accurate Prenatal Insights Without the Risks
Safe, Reliable, & Early Screening for Chromosomal Conditions
GTx-NIPT™ is an advanced minimally invasive prenatal screening method that analyzes fetal DNA circulating in maternal blood. It detects a wide range of chromosomal abnormalities, including common aneuploidies as well as clinically significant microdeletion and microduplication syndromes, providing expectant parents and healthcare providers with early, actionable genetic insights, without risk to the fetus.
Microdeletion:
Monosomy 1p36
- Monosomy 1p36 is caused by the loss (deletion) of 1p36 segments at chromosome 1's short arm (p). This causes developmental delay, distinctive facial features, seizures, and congenital heart defects.
Wolf-Hirschhorn Syndrome
- Wolf-Hirschhorn Syndrome occurs when there's a deletion on chromosome 4's short arm (p), specifically the p16.3. This causes growth delay, seizures, distinctive facial features, and developmental disabilities.
Cri-du-chat Syndrome
- Cri-du-chat Syndrome occurs when there's a deletion on chromosome 5's short arm (p), specifically p15.2. This causes a cat-like cry in infancy, developmental delay, and distinctive facial features.
Langer-Giedion Syndrome
- Langer-Giedion Syndrome (LGS) occurs when there's a deletion on chromosome 8's long arm (q), specifically q24.11 to q24.13. This causes characteristic facial features, multiple bony growths, and short stature.
Jacob Syndrome
- Jacob Syndrome occurs when there's a deletion in chromosome 11's long arm (q), specifically q23 to q25 region. This causes developmental delay, distinctive facial features, heart defects, and a bleeding disorder.
DiGeorge Syndrome
- DiGeorge / VCFS occurs when there's a deletion in chromosome 22's long arm (q), specifically q11.2. This causes heart defects, cleft palate, immune problems, low calcium, and developmental challenges.
Aneuploidies:
- Down syndrome
- Patau syndrome
- Trisomy 16
- Edwards syndrome
- Trisomy 22
- Turner syndrome
- Klinefelter syndrome
- Triple X syndrome
- XYY Syndrome
Caractéristiques:
- High-Precision Detection: Superior accuracy and recall for aneuploidy screening.
- Built for Real-World Challenges: Reliable even with low fetal fractions or limited coverage.
- Clear, Actionable Reports: Microdeletion results include precision and recall values for informed decisions.
Get Trusted Prenatal Insights with GTx-NIPT™
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Bioinformatique
