Prenatal Trio Whole Exome Sequencing
Use
The Prenatal Trio Whole Exome Sequencing (WES) is a method for identifying genetic abnormalities when prenatal imaging reveals anomalies potentially linked to genetic conditions. It is typically pursued if prior fetal chromosome microarray analyses have not yielded diagnostic results. Unlike tests focusing on individual genes, WES evaluates the exons—or coding regions—of numerous genes concurrently through next-generation sequencing. These exons are critical components of the human genome that instruct the body on protein synthesis, essential for normal biological function. The technique provides high accuracy by sequencing the exome from nucleotide to nucleotide to build a robust consensus sequence, which is then compared to established population references by qualified laboratory professionals. The test can reveal both relevant genetic variants predicted to impact prenatal health and unrelated variants that may have future health implications for the child.
Special Instructions
Fetal reports include pathogenic or likely pathogenic variants associated with prenatal indications and variants that, although unrelated, may result in significant disorders during childhood. Parental reports will also include actionable pathogenic variants in disease genes as per ACMG recommendations.
Limitations
The turnaround time (TAT) may vary based on the sample type, commencing with the arrival of all family samples. Interpretation of nucleotide alterations relies heavily on current scientific understanding, which is subject to change as new information emerges. The risk of diagnostic errors, including issues such as sample mix-ups or the presence of genetic variants that could hinder analysis, necessitates consultation with a genetic counselor if there are concerns regarding potential errors.
New York Approved
Methodology
NGS (WES)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (Fresh)
Volume
20-30 cc
Minimum Volume
20-30 cc
Container
Two sterile 15 ml conical centrifuge tubes.
Collection Instructions
Collect 20-30 cc of fluid in two sterile 15 ml conical centrifuge tubes. Discard the first 2 cc of fluid collected.
Storage Instructions
Ship the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hours of sample date. Specimen cannot be frozen.