ExomeDx Prenatal, proband
Use
ExomeDx™ Prenatal is used when fetal anomalies are detected via ultrasound and chromosomal microarray (CMA) and karyotype are non‑diagnostic. It enables comprehensive exome sequencing of the fetus (proband) to provide diagnostic insights that can inform prognosis, perinatal management, recurrence risk, and delivery planning.
Special Instructions
Not provided.
Limitations
As with exome sequencing, certain variant types such as deletions spanning exons, complete gene deletions, rearrangements, or duplications may not be detected. Confirmation of copy number variants or deletions may require additional quantitative assays like qPCR or MLPA. Maternal cell contamination must be considered and may require concurrent testing such as maternal sample. Interpretation is limited by exome coverage; non‑coding, deep intronic, or regulatory variants may be missed.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
minimum 30 mL
Minimum Volume
Not provided
Storage Instructions
Ship overnight at ambient temperature; use cool pack in hot weather.
Other tests from different labs that may be relevant