Special Instructions

Ordering requires specimens from proband and both parents to be submitted, ideally together and within three weeks, with family member information and consents as applicable. A completed order form signed by provider, patient/guardian, and for relatives, their consents, is required.

Limitations

Parental specimens are used solely to aid analysis of the patient’s results; no independent relative report is issued. Sequencing requires sufficient DNA quality and quantity, and failure to include family members may reduce sensitivity and increase variants of uncertain significance.

Biomarkers

Result Turnaround Time

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