PreSeek™ Non-invasive Prenatal Gene Sequencing Screen
Use
PreSeek™ screens for clinically significant genetic disorders not detected by existing noninvasive prenatal screening technologies. This test assesses fetal DNA for pathogenic variants in 30 genes, providing crucial information for medical planning. Many disorders are rare but impactful, comparable in occurrence to Down syndrome. Early detection in pregnancy allows healthcare providers to strategize care, including genetic counseling and specialist referrals. This comprehensive screen equips families and physicians with vital knowledge about possible genetic disorders, thus enhancing preparation and decision-making, even in absence of family history. Follow-up with diagnostic testing is recommended to confirm results.
Special Instructions
Patients must be at least 9 weeks gestation at specimen collection. PreSeek™ is not a replacement for existing tests when clinical findings suggest risk. Despite high accuracy, there are potential risks for undetected abnormalities due to various factors, including placental or fetal mosaicism. Any concerns regarding the results should be discussed with a genetic counselor. Healthcare providers are tasked with managing patients based on PreSeek results and ensuring appropriate follow-up tests are conducted based on clinical indications.
Limitations
PreSeek does not screen for common fetal chromosome abnormalities detectable through standard NIPT methods. Positive results should prompt follow-up with invasive tests before making medical decisions. Only specific variants within exons or nearby boundaries are reported, and misinterpretation can occur due to incorrect familial information or clinical data. Over 97% of targeted areas are sequenced at a minimum of 200X coverage, but variants outside these parameters, including promoter regions, may not be detected. Sensitivity is high for single nucleotide variants, but complex mutations may present lower sensitivity. This analysis does not cover chromosomal copy number changes.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
8 mL
Minimum Volume
8 mL
Container
Streck tubes
Collection Instructions
Collect in two (2) Streck tubes.
Storage Instructions
Ship at room temperature; do not freeze or heat.
Causes for Rejection
Samples received after 8 days will be rejected.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
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