PGxome® - Prenatal Whole Exome Test
Use
The PGxome Prenatal Test is specifically designed for ongoing pregnancies with abnormal ultrasound findings and non-ongoing fetal cases with a suspected underlying genetic cause. It utilizes whole exome sequencing (WES) to comprehensively analyze the protein-coding and adjacent intron regions of nearly all clinically relevant human genes, as most known disease-causing variants are found in these regions. This can aid in urgent genetic diagnosis and timely acute medical management decisions. The diagnostic yield varies based on the clinical phenotype of the fetus, with higher yields in fetuses presenting with brain and skeletal abnormalities.
Special Instructions
Detailed clinical notes or a completed clinical features checklist is required for testing. Limited secondary findings are available for opt-in, including guideline-recommended genes and moderate to severe childhood onset disorders. A parental specimen is required for quality assurance purposes, and a backup cell culture is required for NGS. Prenatal testing proceeds immediately upon meeting all test requirements, and insurance holds can be requested if necessary.
Limitations
This test targets most but not all coding regions of the genome. It does not detect all genetic changes, such as chromosomal rearrangements or deep intronic variants. Sensitivity may vary depending on exon size and read depth. It has limited sensitivity for detecting CNVs smaller than four exons. Some regions with repetitive elements or paralogy may have reduced sensitivity. All variants are assigned to interpretation categories per ACMG guidelines, and only relevant variants are reported. Secondary findings require opt-in and are not guaranteed. Benign and likely benign variants are not reported.
New York Approved
Methodology
NGS (WES)
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Cultured Cells
Volume
Not provided
Minimum Volume
Not provided