Introduction
NIFTY® Mono evaluates the risk of 202 dominant monogenic diseases related to 155 target genes by collecting maternal peripheral blood, using dual unique molecular indexing (UMI) for library preparation, testing fetal free DNA fragments in maternal peripheral blood during pregnancy through target region capture and high-throughput sequencing technology, and combining with bioinformatics analysis technology. UMI analysis can significantly reduce the problem of false positives caused by PCR amplification deviations or the introduction of wrong bases during the library preparation process, and has very high specificity and sensitivity.
What clinical challenges are targeted by NIFTY® Mono
Dominant monogenic diseases account for more than 50% of monogenic diseases, and the comprehensive incidence of 200+ target diseases tested is more than 1/400. 74% of dominant monogenic diseases are caused by new mutations. Such cases are not inherited from parents, and the affected fetus does not necessarily have a phenotype in the uterus, or ultrasound abnormalities occur only in the middle and late pregnancy. Clinically, such diseases are lack of effective early screening methods, and are extremely susceptible to missed diagnosis before delivery.
NIFTY® Mono detects comprehensive diseases, including diseases of the skeleton, nerves, muscles, and syndromes affecting multiple systems (more than 200 types of dominant MDs, such as Noonan syndrome, achondroplasia, osteogenesis imperfecta, etc., are targeted), and can effectively prevent and control the initial onset of dominant monogenic diseases, which has important clinical screening significance.
Applicable Clinical Scenarios
- Singleton pregnant women with normal phenotype at 10+0~24+6 weeks of gestation
Important features of NIFTY® Mono
| Product Name | NIFTY Mono 200+ Monogenic Diseases Screening |
| Detection Scope | 202 dominant monogenic diseases related to pathogenic or likely pathogenic mutation sites in 155 target genes |
| Library Preparation Method | Dual UMI + target region captures |
| Detection Method | High-throughput sequencing |
| Sequencing Depth | > 800× |
| Sample Type | 10 mL maternal peripheral blood; or 4.5mL plasma in three 2 mL EP Tube |
Why Choose NIFTY® Mono
- Excellent testing performance
Sensitivity and specificity > 99%
- Low sample starting amount
Only 10ng of cell free DNA required
- High sequencing depth
Average sequencing depth up to 800×
- Strong database support
BGI Genomics' proprietary Phoenix database
NIFTY® Mono off-shore service process
STEP 1
Physician orders test
STEP 2
Blood sample collected
STEP 3
Sample shipped to us and analyzed
STEP 4
Results sent to physician
NIFTY® Mono Resources
