The GeneMind Expanded Carrier Screening (ECS) solution is developed in accordance with the Carrier Screening Guidelines from the American College of Medical Genetics and Genomics. It screens for 191 monogenic disorders, including autosomal recessive and X-linked conditions, helping couples of reproductive age assess their carrier status and understand potential reproductive risks.
This solution covers the entire workflow from nucleic acid extraction to data analysis, which can greatly facilitate your research work.
This solution achieves high coverage (99%) of the coding regions of 215 genes and demonstrates high sensitivity, high positive predictive value, and highly consistent mutation detection performance across multiple platforms such as SURFSeq 5000, FASTASeq 300, and GenoLab M
A 215-gene panel enables the analysis of 191 genetic diseases, along with the detection of the MTHFR gene 677 locus—a critical variant in folic acid metabolism that plays a key role in pregnancy health and the prevention of neural tube defects
NGS enables simultaneously screening of hundreds of genes in one run, providing information on a broader range of targets with a shorter turnaround time than traditional techniques such as PCR or Sanger sequencing
GeneMind provides a streamlined workflow including extraction kits, library preparation kits, flow cells, sequencing kits, and analysis software to ensure reliable results
| Parameter | Carrier Screen | |||
| Sample type | gDNA / Tissue / blood / buccal swabs | |||
| Method | Capture sequencing | |||
| Panel Size | Region size: 2152.76 Kb, probe coverage size: 2690.81 kb | |||
| Sequencing Platform | FASTASeq™ S | FASTASeq™ 300 | GenoLab™ M | SURFSeq™ 5000 |
|
Number of samples per run (1 Positive Control +1 Negative Control included) |
1 FCL: 4 | 1 FCM: 25 | 1 FCM: 50 | 1 FCM: 100 |
| 1 FCM: 8 | 1 FCH: 56 | 1 FCH: 100 | 1 FCH: 400 | |
| / | 1 FCP: 100 | / | / | |
| Read length | PE150 | |||
| Required data/ sample | ≥1.2 Gb raw data | |||
| Turnaround time¹ | 3-10 days | |||
| Report generation | Local analysis and report system | |||
1. Please note that the tun -around-time shown in the table is validated in GeneMind's lab, just for reference. It may be different due to the local situation such as the sample volumes, lab equipment and the proficiency of operator.
