Special Instructions

Specimens on the fetus (proband) only—parental samples are not included. Order must use test code TK89b. Label specimen tube appropriately with two identifiers. Samples should be submitted with required clinical information and ship under recommended conditions. Trios/duos not applicable to this proband‑only option.

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.

Biomarkers

Result Turnaround Time

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